ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.842T>C (p.Ile281Thr)

gnomAD frequency: 0.00009  dbSNP: rs146659849
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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 RCV001049932 SCV001214012 uncertain significance PRPH2-related disorder 2023-05-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 281 of the PRPH2 protein (p.Ile281Thr). This variant is present in population databases (rs146659849, gnomAD 0.02%). 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. ClinVar contains an entry for this variant (Variation ID: 846596). This missense change has been observed in individual(s) with clinical features of PRPH2-related conditions (Invitae).

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