ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.361G>C (p.Ala121Pro)

dbSNP: rs782197638
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041976 SCV001205630 likely pathogenic Fabry disease 2023-03-10 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Fabry disease (PMID: 15100373; Invitae). 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. 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: 840073). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 121 of the GLA protein (p.Ala121Pro).

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