ClinVar Miner

Submissions for variant NM_001102608.3(COL6A6):c.2540G>A (p.Arg847Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004342186 SCV004061848 uncertain significance not specified 2023-08-10 criteria provided, single submitter clinical testing The c.2540G>A (p.R847Q) alteration is located in exon 6 (coding exon 6) of the COL6A6 gene. This alteration results from a G to A substitution at nucleotide position 2540, causing the arginine (R) at amino acid position 847 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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