ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1849G>A (p.Gly617Arg)

dbSNP: rs1477067987
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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 RCV001370962 SCV001567510 uncertain significance Familial aplasia of the vermis 2022-01-15 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with retinitis pigmentosa (Invitae). 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 expected to disrupt INPP5E protein function. ClinVar contains an entry for this variant (Variation ID: 1061390). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 617 of the INPP5E protein (p.Gly617Arg).

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