ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.2131G>A (p.Val711Ile)

gnomAD frequency: 0.00005  dbSNP: rs764962408
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074261 SCV001239834 uncertain significance Retinal dystrophy 2019-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001226627 SCV001398948 uncertain significance not provided 2024-05-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 711 of the PDE6A protein (p.Val711Ile). This variant is present in population databases (rs764962408, gnomAD 0.004%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 30543658). ClinVar contains an entry for this variant (Variation ID: 866350). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PDE6A protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002482153 SCV002778508 uncertain significance Retinitis pigmentosa 43 2021-08-26 criteria provided, single submitter clinical testing

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