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

gnomAD frequency: 0.00057  dbSNP: rs78211353

Total submissions: 5

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	RCV003411968	SCV004106606	uncertain significance	INPP5E-related condition	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