ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.950T>C (p.Ile317Thr)

dbSNP: rs869312158
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047256 SCV001211197 pathogenic Fabry disease 2019-01-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant has been observed to segregate with Fabry disease in a family (PMID: 23305247) and has been observed in mutiple individuals affected with Fabry disease (PMID: 12175777, 11914245, 17040996, 18023222). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 317 of the GLA protein (p.Ile317Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine.

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