ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) (rs769771981)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000610587 SCV000731757 uncertain significance not specified 2017-07-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Gly1315Ser va riant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 6/30746 South Asian chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; db SNP rs769771981). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. The glycine (Gl y) at position 1315 is not highly conserved in mammals and evolutionary distant species. Of note, 2 mammals (Hedgehog and Pacific Walrus) carry a serine (Ser) d espite high nearby amino acid conservation; raising the possibility that this ch ange at this position may be tolerated. Additional computational prediction tool s do not provide strong support for or against an impact to the protein. In summ ary, while the clinical significance of the p.Gly1315Ser variant is uncertain, a vailable data suggest that it is more likely to be benign.
Fulgent Genetics,Fulgent Genetics RCV000765016 SCV000896200 uncertain significance Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome type 1 2018-10-31 criteria provided, single submitter clinical testing

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