ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.609T>A (p.Asp203Glu)

dbSNP: rs1561660796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001323207 SCV001514114 uncertain significance Myofibrillar myopathy 3 2022-07-12 criteria provided, single submitter clinical testing 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: 1023197). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 203 of the MYOT protein (p.Asp203Glu). 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.
Revvity Omics, Revvity RCV001323207 SCV003810970 uncertain significance Myofibrillar myopathy 3 2019-12-02 criteria provided, single submitter clinical testing

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