ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2513T>C (p.Leu838Pro)

dbSNP: rs1568947214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730926 SCV000858693 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001222490 SCV001394589 uncertain significance Bethlem myopathy 1A 2022-03-18 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COL6A2 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 595396). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 838 of the COL6A2 protein (p.Leu838Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL6A2-related conditions.

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