ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.776C>T (p.Pro259Leu)

gnomAD frequency: 0.00002  dbSNP: rs767905829
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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) RCV000726504 SCV000345098 uncertain significance not provided 2016-08-18 criteria provided, single submitter clinical testing
GeneDx RCV000726504 SCV000536529 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL6A1 gene. The P259L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P259L variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P259L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV003517178 SCV004369328 benign Bethlem myopathy 1A 2024-04-03 criteria provided, single submitter clinical testing

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