ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1425del (p.Gly476fs)

dbSNP: rs878854398
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255364 SCV000322513 pathogenic not provided 2024-05-22 criteria provided, single submitter clinical testing Identified in a heterozygous state in a patient with metabolic myopathy and reported as a variant of uncertain significance (PMID: 27854218); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30564623, 27854218)
Eurofins Ntd Llc (ga) RCV000255364 SCV000333904 pathogenic not provided 2018-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853368 SCV002240581 pathogenic Bethlem myopathy 1A 2023-02-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly476Alafs*29) in the COL6A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL6A1 are known to be pathogenic (PMID: 19884007, 20976770). This variant is present in population databases (rs781122262, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with metabolic myopathy (PMID: 27854218). ClinVar contains an entry for this variant (Variation ID: 224705). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004529013 SCV004106656 likely pathogenic COL6A1-related disorder 2023-01-14 criteria provided, single submitter clinical testing The COL6A1 c.1425delA variant is predicted to result in a frameshift and premature protein termination (p.Gly476Alafs*29). This variant was reported in an individual with phenotypes suggestive of a metabolic myopathy (Punetha et al. 2016. PubMed ID: 27854218). This variant is reported in 0.0016% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-47417358-TA-T). Frameshift variants in COL6A1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Center for Genetic Medicine Research, Children's National Medical Center RCV000228165 SCV000265828 uncertain significance not specified 2015-12-01 flagged submission research

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