ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1235C>T (p.Thr412Ile)

dbSNP: rs2147470514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383502 SCV001582653 pathogenic Fabry disease 2020-09-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Fabry disease (Invitae). It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). For these reasons, this variant has been classified as Pathogenic. This sequence change replaces threonine with isoleucine at codon 412 of the GLA protein (p.Thr412Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.
Revvity Omics, Revvity RCV001780327 SCV002018456 likely pathogenic not provided 2020-03-16 criteria provided, single submitter clinical testing

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