Table III.

Summary of mutations in the crystallin µ gene and the clinical significance of pedigrees with associated dominant sensorineural deafness.

Nucleic acid mutation	Amino acid variation	Molecular consequence	Clinical significance
c.945A>T	p.Ter315Tyr	Single nucleotide variant	Pathogenic
c.941A>C	p.Lys314Thr	Missense	Pathogenic
c.907G>A	p.Ala303Thr	Missense	Uncertain significance
c.864C>G	p.Thr288=	Single nucleotide variant	Benign
c.807T>C	p.Phe269=	Single nucleotide variant	Benign/likely benign
c.761C>T	p.Ala254Val	Missense	Uncertain significance
c.741C>T	p.Tyr247=	Single nucleotide variant	Benign
c.662C>T	p.Ala221Val	Missense	Likely benign
c.580G>A	p.Ala194Thr	Missense	Uncertain significance
c.523_524delinsTT	p.Glu175Leu	Missense	Conflicting interpretations of pathogenicity
c.490-12C>T		Single nucleotide variant	Benign
c.489+9A>G		Single nucleotide variant	Likely benign
c.480C>T	p.Ser160=	Single nucleotide variant	Likely benign
c.479C>T	p.Ser160Phe	Missense	Uncertain significance
c.474G>A	p.Gln158=	Single nucleotide variant	Uncertain significance
c.343A>G	p.Ile115Val	Missense	Uncertain significance
c.325-12T>C		Single nucleotide variant	Benign
c.279G>A	p.Gln93=	Single nucleotide variant	Likely benign
c.135C>A	p.Pro45=	Single nucleotide variant	Likely benign
c.108C>A	p.Ser36Arg	Missense	Conflicting interpretations of pathogenicity
c.8G>T	p.Arg3Leu	Missense	Uncertain significance