ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1748A>G (p.Tyr583Cys)

dbSNP: rs770071916
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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 RCV001231112 SCV001403618 uncertain significance not provided 2022-06-13 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. This variant disrupts the p.Tyr583 amino acid residue in PDE6A. Other variant(s) that disrupt this residue have been observed in individuals with PDE6A-related conditions (PMID: 33090715), which suggests that this may be a clinically significant amino acid residue. 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"). ClinVar contains an entry for this variant (Variation ID: 958026). This missense change has been observed in individual(s) with PDE6A-related disease (Invitae). This variant is present in population databases (rs770071916, gnomAD 0.003%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 583 of the PDE6A protein (p.Tyr583Cys).

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