ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.146G>C (p.Arg49Pro)

dbSNP: rs398123205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078270 SCV000110110 likely pathogenic not provided 2012-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003509487 SCV004299653 pathogenic Fabry disease 2023-04-28 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 GLA protein function. ClinVar contains an entry for this variant (Variation ID: 92545). This missense change has been observed in individual(s) with Fabry disease (PMID: 11668641, 12428061, 31996269; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 49 of the GLA protein (p.Arg49Pro).

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