ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.284G>A (p.Arg95His)

dbSNP: rs192637923
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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 RCV001046620 SCV001210529 uncertain significance Familial aplasia of the vermis 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 95 of the INPP5E protein (p.Arg95His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with INPP5E-related conditions. ClinVar contains an entry for this variant (Variation ID: 843905). 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 INPP5E 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.
Fulgent Genetics, Fulgent Genetics RCV005047237 SCV005680032 uncertain significance MORM syndrome; Joubert syndrome 1 2024-03-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756156 SCV005347890 uncertain significance INPP5E-related disorder 2024-07-03 no assertion criteria provided clinical testing The INPP5E c.284G>A variant is predicted to result in the amino acid substitution p.Arg95His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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