ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln)

gnomAD frequency: 0.00001  dbSNP: rs539986030
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488365 SCV000575302 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing COL6A3: PM2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV000821801 SCV000962573 likely benign Bethlem myopathy 1A 2023-08-30 criteria provided, single submitter clinical testing
GeneDx RCV000488365 SCV002586559 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000488365 SCV003834186 uncertain significance not provided 2020-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975569 SCV005564437 uncertain significance Inborn genetic diseases 2024-09-25 criteria provided, single submitter clinical testing The c.4240G>C (p.E1414Q) alteration is located in exon 9 (coding exon 8) of the COL6A3 gene. This alteration results from a G to C substitution at nucleotide position 4240, causing the glutamic acid (E) at amino acid position 1414 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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