ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.64G>T (p.Val22Leu)

gnomAD frequency: 0.00001  dbSNP: rs376701580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565152 SCV001788440 uncertain significance not provided 2024-12-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237905 SCV005886007 uncertain significance not specified 2025-02-18 criteria provided, single submitter clinical testing Variant summary: MYO7A c.64G>T (p.Val22Leu) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.2e-06 in 244926 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.64G>T in individuals affected with Usher Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1200213). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001832770 SCV002093098 uncertain significance Usher syndrome type 1B 2020-10-13 no assertion criteria provided clinical testing

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