ClinVar Miner

Submissions for variant NM_001354768.3(NRL):c.479T>C (p.Leu160Pro)

dbSNP: rs104894463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003556022 SCV004296310 likely pathogenic not provided 2023-07-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 14044). This missense change has been observed in individual(s) with retinal dystrophy (PMID: 15591106, 28341476). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 160 of the NRL protein (p.Leu160Pro). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. Experimental studies have shown that this missense change affects NRL function (PMID: 15591106, 17335001).
OMIM RCV000015088 SCV000035345 pathogenic Retinal degeneration, autosomal recessive, clumped pigment type 2007-06-01 no assertion criteria provided literature only

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