ClinVar Miner

Submissions for variant NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg)

gnomAD frequency: 0.00058  dbSNP: rs2276717
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890766 SCV001034538 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000114374 SCV002802522 likely benign Retinitis pigmentosa 68 2022-03-31 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888508 SCV004705724 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
OMIM RCV000114374 SCV000147988 pathogenic Retinitis pigmentosa 68 2014-03-27 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000114374 SCV001142334 pathogenic Retinitis pigmentosa 68 2020-01-06 no assertion criteria provided curation NM_020949.2:c.988G>A in the SLC7A14 gene has an allele frequency of 0.023 in East Asian subpopulation in the gnomAD database. This c.988G>A (p.Gly330Arg) variant has been observed in multiple individuals affected with autosomal recessive retinitis pigmentosa, including one in homozygous state and two in compound heterozygous state (PMID: 24670872). Experimental studies have shown that G330R expressing cells showed a diffuse pattern of Slc7a14 expression throughout the cytoplasm (PMID: 24670872). Pathogenic computational verdict because pathogenic predictions from DANN, DEOGEN2, EIGEN, FATHMM-MKL, MutationAssessor, MutationTaster, PrimateAI, REVEL and SIFT. Taken together, we interprete this variant as Pathogenic/Likely pathogenic variant. ACMG/AMP Criteria applied: PP3, PM3_Strong, PS3, BS1.
PreventionGenetics, part of Exact Sciences RCV003935091 SCV004755810 likely benign SLC7A14-related disorder 2019-07-17 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).

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