ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)

gnomAD frequency: 0.00057  dbSNP: rs78211353
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039160 SCV001202674 likely benign Familial aplasia of the vermis 2023-12-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001168667 SCV001331274 uncertain significance Joubert syndrome 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001556039 SCV001777548 uncertain significance not provided 2021-02-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Reported previously in an individual with cone rod dystrophy; however, a second INPP5E variant was not identified, and a homozygous nonsense variant was reported in the SPATA7 gene (Watson et al., 2014).; This variant is associated with the following publications: (PMID: 25133751)
PreventionGenetics, part of Exact Sciences RCV004528348 SCV004106606 uncertain significance INPP5E-related disorder 2024-02-06 criteria provided, single submitter clinical testing The INPP5E c.469G>T variant is predicted to result in the amino acid substitution p.Gly157Trp. This variant was reported in the heterozygous state in a patient affected by autosomal recessive cone rod dystrophy who was positive in the SPATA7 gene (Watson et al. 2014. PubMed ID: 25133751). This variant is reported in 0.093% of alleles in individuals of European (non-Finnish) descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV001556039 SCV004161981 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing INPP5E: BP4

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