ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.109G>C (p.Ala37Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734407 SCV000862546 likely pathogenic not provided 2018-07-19 criteria provided, single submitter clinical testing
Invitae RCV000685810 SCV000813308 pathogenic Fabry disease 2018-04-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 37 of the GLA protein (p.Ala37Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Fabry disease (International Fabry Disease Genotype-Phenotype Database: http://dbfgp.org/dbFgp/fabry/, Invitae). 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. Other missense substitutions at this codon (p.Ala37Thr and p.Ala37Val) have been reported in individuals affected with Fabry disease (PMID: 17452128, 20300124). For these reasons, this variant has been classified as Pathogenic.

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