ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu)

gnomAD frequency: 0.00001  dbSNP: rs1246397590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217421 SCV001389259 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-06-23 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 946537). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1571 of the COL12A1 protein (p.Asp1571Glu).
PreventionGenetics, part of Exact Sciences RCV003405402 SCV004116162 uncertain significance COL12A1-related condition 2022-11-14 criteria provided, single submitter clinical testing The COL12A1 c.4713T>A variant is predicted to result in the amino acid substitution p.Asp1571Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00089% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-75853082-A-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GeneDx RCV003442777 SCV004169606 uncertain significance not provided 2023-05-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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