Submissions for variant NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala)

gnomAD frequency: 0.00079  dbSNP: rs202176764

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000360027	SCV000337361	uncertain significance	not provided	2017-10-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000360027	SCV001197764	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000360027	SCV002004988	likely benign	not provided	2021-07-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26582918, 27535533)
Ambry Genetics	RCV002518942	SCV003695836	uncertain significance	Inborn genetic diseases	2022-03-03	criteria provided, single submitter	clinical testing	The c.2585A>C (p.D862A) alteration is located in exon 38 (coding exon 38) of the COL9A1 gene. This alteration results from a A to C substitution at nucleotide position 2585, causing the aspartic acid (D) at amino acid position 862 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000360027	SCV004011681	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	COL9A1: BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000360027	SCV004227282	uncertain significance	not provided	2022-11-02	criteria provided, single submitter	clinical testing	BS1_supporting
PreventionGenetics, part of Exact Sciences	RCV003930102	SCV004746515	likely benign	COL9A1-related disorder	2022-04-19	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).