ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.215G>C (p.Cys72Ser)

dbSNP: rs375090109
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001295989 SCV001484943 uncertain significance PRPH2-related disorder 2022-10-25 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 999926). This missense change has been observed in individual(s) with cone dystrophy (PMID: 9052636). This variant is present in population databases (rs375090109, gnomAD 0.005%). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 72 of the PRPH2 protein (p.Cys72Ser).
GeneDx RCV001776177 SCV002012956 uncertain significance not provided 2019-04-03 criteria provided, single submitter clinical testing Published functional studies demonstrated no effect on dimer formation, folding, or subunit assembly (Goldberg et al., 1998); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 9425091, 9831753)
Ambry Genetics RCV002541833 SCV003648476 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The c.215G>C (p.C72S) alteration is located in exon 1 (coding exon 1) of the PRPH2 gene. This alteration results from a G to C substitution at nucleotide position 215, causing the cysteine (C) at amino acid position 72 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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