ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile)

gnomAD frequency: 0.00001  dbSNP: rs776324215
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000346399 SCV000345928 uncertain significance not provided 2016-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001204802 SCV001376025 uncertain significance Bethlem myopathy 1A 2020-07-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 501 of the COL6A3 protein (p.Thr501Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs776324215, ExAC 0.001%). This variant has not been reported in the literature in individuals with COL6A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 291216). 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 C15"). 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.
PreventionGenetics, part of Exact Sciences RCV004549630 SCV004110765 uncertain significance COL6A3-related disorder 2023-04-17 criteria provided, single submitter clinical testing The COL6A3 c.1502C>T variant is predicted to result in the amino acid substitution p.Thr501Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-238289953-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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