ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.392C>A (p.Ala131Glu)

gnomAD frequency: 0.00001  dbSNP: rs982468554
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812064 SCV000952366 uncertain significance Myofibrillar myopathy 3 2022-08-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 655808). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 131 of the MYOT protein (p.Ala131Glu).
Ambry Genetics RCV002537365 SCV003753123 uncertain significance Inborn genetic diseases 2022-07-12 criteria provided, single submitter clinical testing The c.392C>A (p.A131E) alteration is located in exon 3 (coding exon 2) of the MYOT gene. This alteration results from a C to A substitution at nucleotide position 392, causing the alanine (A) at amino acid position 131 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000812064 SCV004236767 uncertain significance Myofibrillar myopathy 3 2023-06-15 criteria provided, single submitter clinical testing

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