ClinVar Miner

Submissions for variant NM_006204.4(PDE6C):c.767A>T (p.Asp256Val)

gnomAD frequency: 0.00002  dbSNP: rs762557292
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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 RCV001055439 SCV001219832 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 256 of the PDE6C protein (p.Asp256Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (rs762557292, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with PDE6C-related conditions. 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 C15"). 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005394694 SCV006058021 uncertain significance Cone dystrophy 4 2022-03-15 criteria provided, single submitter research

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