ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met)

gnomAD frequency: 0.00002  dbSNP: rs863225198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201710 SCV000256416 pathogenic Familial aplasia of the vermis 2015-02-23 criteria provided, single submitter research
Invitae RCV000201710 SCV002171908 pathogenic Familial aplasia of the vermis 2022-02-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 217655). This missense change has been observed in individual(s) with Joubert syndrome (PMID: 26092869). This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 355 of the INPP5E protein (p.Thr355Met).

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