ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.2953G>A (p.Val985Ile) (rs781394145)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000296392 SCV000343110 uncertain significance not provided 2016-07-26 criteria provided, single submitter clinical testing
Invitae RCV001036519 SCV001199887 uncertain significance Bethlem myopathy 1 2019-04-17 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 985 of the COL6A1 protein (p.Val985Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs781394145, ExAC 0.009%). This variant has been observed in an individual affected with ossification of the posterior longitudinal ligament of the spine (OPLL) (PMID: 27246988). ClinVar contains an entry for this variant (Variation ID: 288875). 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.

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