ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.17G>A (p.Arg6His)

gnomAD frequency: 0.00003  dbSNP: rs387906882
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000023360 SCV000833114 uncertain significance Myofibrillar myopathy 3 2022-11-22 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 30407). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 21336781). This variant is present in population databases (rs387906882, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 6 of the MYOT protein (p.Arg6His).
GeneDx RCV001588824 SCV001826115 likely pathogenic not provided 2021-01-19 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 21336781, 20301582, 24928145)
Revvity Omics, Revvity RCV000023360 SCV003817866 uncertain significance Myofibrillar myopathy 3 2019-04-03 criteria provided, single submitter clinical testing
OMIM RCV000023360 SCV000044651 pathogenic Myofibrillar myopathy 3 2011-08-01 no assertion criteria provided literature only

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