ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile)

gnomAD frequency: 0.00003  dbSNP: rs375640580
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707735 SCV000836845 benign Bethlem myopathy 1A 2023-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001759424 SCV001988191 uncertain significance not provided 2021-04-28 criteria provided, single submitter clinical testing Previously reported as a variant of uncertain significance in an individual with a clinical diagnosis of LGMD; variants in other genes that may influence the phenotype were also obsevered (Fichna et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29970176)
Revvity Omics, Revvity RCV001759424 SCV003834582 uncertain significance not provided 2019-08-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547879 SCV004115750 uncertain significance COL6A3-related disorder 2024-02-15 no assertion criteria provided clinical testing The COL6A3 c.7192G>A variant is predicted to result in the amino acid substitution p.Val2398Ile. This variant has been previously reported in the compound heterozygous state in an individual with limb-girdle muscular dystrophy (Table 1, Fichna et al. 2018. PubMed ID: 29970176). This variant is reported in 0.026% of alleles in individuals of African descent in gnomAD. 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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