ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile) (rs200359303)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151524 SCV000199634 uncertain significance not specified 2013-09-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Met2205Ile vari ant in MYO7A has not been reported in individuals with hearing loss, but has bee n identified in 0.1% (4/4072) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs200359303). Alth ough this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational analyses (biochemical a mino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Met2205Ile variant may not impact the protein, though this information is n ot predictive enough to rule out pathogenicity. In summary, the clinical signifi cance of this variant cannot be determined with certainty; however based upon th e computational data and the presence of the variant in the general population, we would lean towards a more likely benign role.

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