ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala) (rs771866500)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636942 SCV000758389 likely pathogenic Joubert syndrome 2019-10-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 522 of the INPP5E protein (p.Gly522Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs771866500, ExAC 0.03%). This variant has been observed to segregate with Joubert syndrome in a family (PMID: 29052317). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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