ClinVar Miner

Submissions for variant NM_001278298.2(COL6A5):c.3031G>A (p.Asp1011Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004091337 SCV003554130 uncertain significance not specified 2022-06-21 criteria provided, single submitter clinical testing The c.3031G>A (p.D1011N) alteration is located in exon 8 (coding exon 7) of the COL6A5 gene. This alteration results from a G to A substitution at nucleotide position 3031, causing the aspartic acid (D) at amino acid position 1011 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003427596 SCV004155524 benign not provided 2023-06-01 criteria provided, single submitter clinical testing COL6A5: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003936641 SCV004754363 likely benign COL6A5-related disorder 2023-08-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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