ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)

gnomAD frequency: 0.00177  dbSNP: rs143107549
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088844 SCV000634584 likely benign Familial aplasia of the vermis 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000839869 SCV000981779 likely benign not provided 2018-03-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Baylor Genetics RCV001335948 SCV001529213 uncertain significance Joubert syndrome 1 2018-06-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002527750 SCV003714435 uncertain significance Inborn genetic diseases 2021-07-16 criteria provided, single submitter clinical testing The c.623C>T (p.T208I) alteration is located in exon 1 (coding exon 1) of the INPP5E gene. This alteration results from a C to T substitution at nucleotide position 623, causing the threonine (T) at amino acid position 208 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004541674 SCV004799688 likely benign INPP5E-related disorder 2019-05-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago RCV003151089 SCV003839616 likely benign not specified 2022-06-13 no assertion criteria provided clinical testing

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