ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg) (rs121912936)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177135 SCV000228965 pathogenic not provided 2016-08-24 criteria provided, single submitter clinical testing
Invitae RCV000018713 SCV000657066 pathogenic Bethlem myopathy 1 2017-12-12 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 121 of the COL6A1 protein (p.Lys121Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with autosomal dominant Bethlem myopathy in a large family (PMID: 11865138). This variant has also been reported in families affected with collagen VI-related dystrophy in the literature (PMID:28877744) and in the Leiden Open-source Variation Database (PMID: 21520333).  ClinVar contains an entry for this variant (Variation ID: 17173). 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: "Tolerated"; PolyPhen-2: "Possibly damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018713 SCV000038996 pathogenic Bethlem myopathy 1 2002-02-26 no assertion criteria provided literature only

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