Submissions for variant NM_014588.6(VSX1):c.731A>G (p.His244Arg)

gnomAD frequency: 0.00310  dbSNP: rs148957473

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000400998	SCV000433190	likely benign	Polymorphous corneal dystrophy	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000971972	SCV001119656	likely benign	not provided	2023-11-28	criteria provided, single submitter	clinical testing
Mendelics	RCV000990295	SCV001141227	uncertain significance	Keratoconus 1	2019-05-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922472	SCV004750950	likely benign	VSX1-related disorder	2023-07-13	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).