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

gnomAD frequency: 0.00043  dbSNP: rs139622306

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002069445	SCV002373589	likely benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002541697	SCV003724387	uncertain significance	Inborn genetic diseases	2023-12-22	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.
GeneDx	RCV002069445	SCV005078461	uncertain significance	not provided	2023-10-19	criteria provided, single submitter	clinical testing	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
Natera, Inc.	RCV001278974	SCV001466029	benign	Epidermolysis bullosa dystrophica inversa, autosomal recessive	2020-11-06	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003399047	SCV004110311	likely benign	COL7A1-related disorder	2024-01-16	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).