ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.352G>A (p.Val118Met)

dbSNP: rs776270511
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001379647 SCV001577483 likely pathogenic not provided 2024-10-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 118 of the NR2E3 protein (p.Val118Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 19933183, 28981474). ClinVar contains an entry for this variant (Variation ID: 812353). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV003461304 SCV004191581 likely pathogenic Enhanced S-cone syndrome 2024-03-08 criteria provided, single submitter clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003094 SCV001161157 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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