ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.425G>A (p.Gly142Asp)

gnomAD frequency: 0.00001  dbSNP: rs372268962
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343680 SCV001537679 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 142 of the PDE6A protein (p.Gly142Asp). This variant is present in population databases (rs372268962, gnomAD 0.01%). This missense change has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 33691693). ClinVar contains an entry for this variant (Variation ID: 1040096).

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