ClinVar Miner

Submissions for variant NM_006204.4(PDE6C):c.2156T>C (p.Met719Thr)

gnomAD frequency: 0.00003  dbSNP: rs1460255181
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000664200 SCV000678431 uncertain significance Achromatopsia 2017-12-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002526931 SCV003460066 uncertain significance not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 719 of the PDE6C protein (p.Met719Thr). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with autosomal recessive achromatopsia (PMID: 30080950). ClinVar contains an entry for this variant (Variation ID: 487699). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PDE6C protein function with a positive predictive value of 80%. 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.

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