ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.7375C>T (p.Arg2459Trp)

gnomAD frequency: 0.00009  dbSNP: rs371066956
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000271135 SCV000337219 uncertain significance not provided 2017-08-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000653572 SCV000775453 uncertain significance Bethlem myopathy 1A 2024-11-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2459 of the COL6A3 protein (p.Arg2459Trp). This variant is present in population databases (rs371066956, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of COL6A3-related conditions (PMID: 30564623, 31069529). ClinVar contains an entry for this variant (Variation ID: 284557). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt COL6A3 protein function with a positive predictive value of 80%. 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.
Revvity Omics, Revvity RCV000271135 SCV003832875 uncertain significance not provided 2022-08-18 criteria provided, single submitter clinical testing
GeneDx RCV000271135 SCV005327577 uncertain significance not provided 2023-11-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31069529, 30564623)

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