ClinVar Miner

Submissions for variant NM_001077620.3(PRCD):c.74C>T (p.Pro25Leu)

dbSNP: rs757471313
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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 RCV001215418 SCV001387163 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 25 of the PRCD protein (p.Pro25Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs757471313, ExAC 0.005%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 31872526). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
GeneDx RCV001215418 SCV002547068 likely pathogenic not provided 2023-09-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32483926, 31872526)

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