Submissions for variant NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu)

gnomAD frequency: 0.00013  dbSNP: rs145861489

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177640	SCV000229541	uncertain significance	not provided	2016-02-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000177640	SCV003231954	benign	not provided	2024-12-12	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000177640	SCV003828163	likely benign	not provided	2023-12-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000177640	SCV005192219	uncertain significance	not provided		criteria provided, single submitter	not provided
GeneDx	RCV000177640	SCV005441415	uncertain significance	not provided	2024-06-27	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease; In silico analysis indicates that this missense variant does not alter protein structure/function
PreventionGenetics, part of Exact Sciences	RCV004539653	SCV004783369	likely benign	COL4A1-related disorder	2022-09-26	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).