ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1796G>A (p.Arg599Gln)

gnomAD frequency: 0.00001  dbSNP: rs750836133
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064506 SCV001229413 pathogenic Familial aplasia of the vermis 2023-02-04 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 INPP5E protein function. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 858607). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 599 of the INPP5E protein (p.Arg599Gln). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant.

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