ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.29T>C (p.Val10Ala)

gnomAD frequency: 0.00001  dbSNP: rs878853237
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675065 SCV000800537 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001315655 SCV001506241 uncertain significance not provided 2021-12-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 10 of the MYO7A protein (p.Val10Ala). This variant is present in population databases (no rsID available, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of non-syndromic hearing loss (PMID: 24105371). ClinVar contains an entry for this variant (Variation ID: 242393). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001315655 SCV002601568 uncertain significance not provided 2022-05-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33671976, 24105371)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689690 SCV005185536 uncertain significance not specified 2024-05-29 criteria provided, single submitter clinical testing Variant summary: MYO7A c.29T>C (p.Val10Ala) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 242638 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.29T>C has been reported in the literature in the compound heterozygous state in at least 1 individual affected with autosomal recessive nonsyndromic deafness who carried a pathogenic variant (for recessive disease) in trans (example, Brownstein_2014). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 24105371). ClinVar contains an entry for this variant (Variation ID: 242393). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001828119 SCV002093094 uncertain significance Usher syndrome type 1B 2020-03-05 no assertion criteria provided clinical testing

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