ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1437C>T (p.Gly479=)

gnomAD frequency: 0.00010  dbSNP: rs762625409
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000338149 SCV000336433 uncertain significance not provided 2015-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001043855 SCV001207622 benign Bethlem myopathy 1A 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000338149 SCV001999716 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV000338149 SCV004146748 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing COL6A1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004543036 SCV004782359 uncertain significance not specified 2023-10-18 no assertion criteria provided clinical testing The COL6A1 c.1437C>T variant is not predicted to result in an amino acid change (p.=). This variant is predicted to possibly create a donor site within the exon and may result in aberrant splicing (Alamut Visual Plus v1.6.1). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-47417373-C-T). Although we suspect that this variant may be benign, 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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