ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.436C>T (p.Pro146Ser)

dbSNP: rs104894837
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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 RCV000011473 SCV003445887 uncertain significance Fabry disease 2023-04-05 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change affects GLA function (PMID: 17555407). 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: 10726). This missense change has been observed in individual(s) with clinical features of Fabry disease (PMID: 8012363, 17206462, 31956509; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 146 of the GLA protein (p.Pro146Ser).
OMIM RCV000011473 SCV000031705 pathogenic Fabry disease 2017-06-16 no assertion criteria provided literature only

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