Submissions for variant NM_001845.6(COL4A1):c.1754G>A (p.Arg585His)

gnomAD frequency: 0.00004  dbSNP: rs754034347

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Fulgent Genetics, Fulgent Genetics	RCV002495913	SCV002788632	uncertain significance	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	2021-07-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004536208	SCV004104767	uncertain significance	COL4A1-related disorder	2023-09-10	criteria provided, single submitter	clinical testing	The COL4A1 c.1754G>A variant is predicted to result in the amino acid substitution p.Arg585His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of South Asian descent in gnomAD, including a homozygous individual (http://gnomad.broadinstitute.org/variant/13-110838875-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen	RCV001573118	SCV004135610	uncertain significance	not provided	2023-02-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001573118	SCV004637725	likely benign	not provided	2024-06-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004611850	SCV005103917	likely benign	Inborn genetic diseases	2024-03-25	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573118	SCV001798493	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573118	SCV001968549	uncertain significance	not provided		no assertion criteria provided	clinical testing