ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg)

gnomAD frequency: 0.00043  dbSNP: rs139622306
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002069445 SCV002373589 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002541697 SCV003724387 uncertain significance Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing The c.1985A>G (p.Q662R) alteration is located in exon 15 (coding exon 15) of the COL7A1 gene. This alteration results from a A to G substitution at nucleotide position 1985, causing the glutamine (Q) at amino acid position 662 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003399047 SCV004110311 likely benign COL7A1-related condition 2024-01-16 criteria provided, single submitter 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).
Natera, Inc. RCV001278974 SCV001466029 benign Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-11-06 no assertion criteria provided clinical testing

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