Submissions for variant NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe)

gnomAD frequency: 0.00044  dbSNP: rs79668755

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000902663	SCV001047094	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888509	SCV004705717	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV000902663	SCV005306250	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000114376	SCV000147990	pathogenic	Retinitis pigmentosa 68	2014-03-27	no assertion criteria provided	literature only
Reproductive Health Research and Development, BGI Genomics	RCV000114376	SCV001142333	uncertain significance	Retinitis pigmentosa 68	2020-01-06	no assertion criteria provided	curation	NM_020949.2:c.1391G>T in the SLC7A14 gene has an allele frequency of 0.013 in East Asian subpopulation in the gnomAD database. It has been reported previously in individuals with retinitis pigmentosa, including one homozygous and one compound heterozygote (PMID: 24670872). We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: PM3, BS1.
PreventionGenetics, part of Exact Sciences	RCV003925105	SCV004738761	likely benign	SLC7A14-related disorder	2019-07-18	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).