ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.975G>C (p.Lys325Asn)

dbSNP: rs756613766
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001895836 SCV002154649 uncertain significance PRPH2-related disorder 2021-10-22 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 325 of the PRPH2 protein (p.Lys325Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). 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. 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 not expected to disrupt PRPH2 protein function. This variant has not been reported in the literature in individuals affected with PRPH2-related conditions.

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