ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.6224C>T (p.Pro2075Leu) (rs113331139)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819528 SCV000960193 uncertain significance Bethlem myopathy 1 2019-06-27 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 2075 of the COL6A3 protein (p.Pro2075Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs113331139, ExAC 0.02%). This variant has been observed in an individual affected with Ulrich congenital muscular dystrophy, however a second variant in COL6A3 was not reported in this individual. This individual also carried a heterozygous mutation in COL6A2 (PMID: 24038877). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Illumina Clinical Services Laboratory,Illumina RCV001136581 SCV001296434 benign Collagen VI-related myopathy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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