ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1861G>A (p.Asp621Asn) (rs267606750)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725485 SCV000337240 pathogenic not provided 2017-11-24 criteria provided, single submitter clinical testing
Invitae RCV000018699 SCV000931580 pathogenic Bethlem myopathy 1 2019-12-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 621 of the COL6A2 protein (p.Asp621Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with autosomal dominant limb-girdle muscular dystrophy in a family (PMID: 11865138) and has also been observed in several individuals affected with Bethlem myopathy (PMID: 20576434). This variant is also known as p.Asp620Asn in the literature. ClinVar contains an entry for this variant (Variation ID: 17159). 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"). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000725485 SCV001248172 pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
OMIM RCV000018699 SCV000038982 pathogenic Bethlem myopathy 1 2002-02-26 no assertion criteria provided literature only

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