ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.113T>C (p.Val38Ala)

gnomAD frequency: 0.00041  dbSNP: rs144518447
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001564381 SCV001787538 uncertain significance not provided 2020-12-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001564381 SCV002152210 uncertain significance not provided 2024-12-23 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 38 of the MYO3A protein (p.Val38Ala). This variant is present in population databases (rs144518447, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MYO3A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1199644). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002495901 SCV002776768 uncertain significance Autosomal recessive nonsyndromic hearing loss 30 2021-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039338 SCV004949691 uncertain significance Inborn genetic diseases 2023-11-22 criteria provided, single submitter clinical testing The c.113T>C (p.V38A) alteration is located in exon 3 (coding exon 1) of the MYO3A gene. This alteration results from a T to C substitution at nucleotide position 113, causing the valine (V) at amino acid position 38 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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