ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.250G>A (p.Asp84Asn)

gnomAD frequency: 0.00001  dbSNP: rs368257452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776716 SCV002013493 uncertain significance not provided 2019-08-07 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003757227 SCV004403174 uncertain significance PRPH2-related disorder 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 84 of the PRPH2 protein (p.Asp84Asn). This variant is present in population databases (rs368257452, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1320737). 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 PRPH2 protein function with a positive predictive value of 95%. 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 RCV004953064 SCV005482766 uncertain significance Inborn genetic diseases 2024-07-26 criteria provided, single submitter clinical testing The c.250G>A (p.D84N) alteration is located in exon 1 (coding exon 1) of the PRPH2 gene. This alteration results from a G to A substitution at nucleotide position 250, causing the aspartic acid (D) at amino acid position 84 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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