ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.784G>C (p.Asp262His)

dbSNP: rs1271782226
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794303 SCV000933702 uncertain significance Myofibrillar myopathy 3 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 262 of the MYOT protein (p.Asp262His). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYOT-related conditions. This variant is not present in population databases (ExAC no frequency).

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