Submissions for variant NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)

gnomAD frequency: 0.00045  dbSNP: rs201943537

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000336812	SCV000393358	uncertain significance	Congenital stationary night blindness 1D	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga)	RCV000732305	SCV000860239	likely benign	not specified	2018-03-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522730	SCV001732325	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002520971	SCV003690025	uncertain significance	Inborn genetic diseases	2021-10-21	criteria provided, single submitter	clinical testing	The c.2183C>T (p.A728V) alteration is located in exon 6 (coding exon 5) of the SLC24A1 gene. This alteration results from a C to T substitution at nucleotide position 2183, causing the alanine (A) at amino acid position 728 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001522730	SCV001807854	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001522730	SCV001971424	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003940236	SCV004750385	likely benign	SLC24A1-related disorder	2019-07-19	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).