ClinVar Miner

Submissions for variant NM_006790.2(MYOT):c.17G>A (p.Arg6His) (rs387906882)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000023360 SCV000833114 uncertain significance Myofibrillar myopathy 3 2018-03-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 6 of the MYOT protein (p.Arg6His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs387906882, ExAC 0.007%). This variant has been reported in an individual affected with limb girdle muscular dystrophy (PMID: 21336781). ClinVar contains an entry for this variant (Variation ID: 30407). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). A different missense substitution at this codon (p.Arg6Gly) has been reported in individuals affected with myopathy (PMID: 24928145). 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.
OMIM RCV000023360 SCV000044651 pathogenic Myofibrillar myopathy 3 2011-08-01 no assertion criteria provided literature only

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