ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.946G>A (p.Val316Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466825 SCV002761539 uncertain significance Retinitis pigmentosa 40 2021-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002571404 SCV003244262 uncertain significance not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 316 of the PDE6B protein (p.Val316Met). This variant is present in population databases (rs200694314, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PDE6B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1803155). Invitae Evidence 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 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 PDE6B 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.
Ambry Genetics RCV002571403 SCV003599788 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.946G>A (p.V316M) alteration is located in exon 6 (coding exon 6) of the PDE6B gene. This alteration results from a G to A substitution at nucleotide position 946, causing the valine (V) at amino acid position 316 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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