ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr)

gnomAD frequency: 0.00003  dbSNP: rs529770550
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247019 SCV000308203 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000766392 SCV000573488 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing The A838T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A838T 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). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals; however, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with COL6A1-related disorders (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Labcorp Genetics (formerly Invitae), Labcorp RCV001854959 SCV002268141 likely benign Bethlem myopathy 1A 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021007 SCV004929485 uncertain significance Inborn genetic diseases 2024-02-26 criteria provided, single submitter clinical testing The c.2512G>A (p.A838T) alteration is located in exon 35 (coding exon 35) of the COL6A1 gene. This alteration results from a G to A substitution at nucleotide position 2512, causing the alanine (A) at amino acid position 838 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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