ClinVar Miner

Submissions for variant NM_002469.3(MYF6):c.334G>T (p.Ala112Ser)

gnomAD frequency: 0.00121  dbSNP: rs28928909
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413227 SCV000490645 uncertain significance not provided 2020-05-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 11053684, no PMID, 32528171)
Labcorp Genetics (formerly Invitae), Labcorp RCV000988878 SCV000651969 likely benign Autosomal dominant centronuclear myopathy 2024-04-25 criteria provided, single submitter clinical testing
Mendelics RCV000988878 SCV001138775 uncertain significance Autosomal dominant centronuclear myopathy 2019-05-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000413227 SCV001370236 uncertain significance not provided 2019-03-09 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PP3,PP5.
PreventionGenetics, part of Exact Sciences RCV003407334 SCV004114963 uncertain significance MYF6-related disorder 2023-03-03 criteria provided, single submitter clinical testing The MYF6 c.334G>T variant is predicted to result in the amino acid substitution p.Ala112Ser. This variant has been reported in the literature in patients with myopathy and limb-girdle weakness; however, no additional functional or segregation studies have confirmed its pathogenicity (Kerst et al. 2000. PubMed ID: 11053684; Töpf A et al. 2020. PubMed ID: 32528171). This variant is reported in 0.17% of alleles in individuals of European (Finnish) descent, and in over 300 total alleles in the gnomAD database (http://gnomad.broadinstitute.org/variant/12-81101832-G-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
OMIM RCV000988878 SCV000035473 uncertain significance Autosomal dominant centronuclear myopathy 2000-12-01 no assertion criteria provided literature only

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