ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.641T>C (p.Leu214Pro)

dbSNP: rs998898101
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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 RCV001202396 SCV001373507 uncertain significance Leber congenital amaurosis 13 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 214 of the RDH12 protein (p.Leu214Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with retinal degeneration (PMID: 30372751). ClinVar contains an entry for this variant (Variation ID: 934063). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001833777 SCV002091283 uncertain significance Leber congenital amaurosis 2020-11-04 no assertion criteria provided clinical testing

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