ClinVar Miner

Submissions for variant NM_000308.4(CTSA):c.394G>A (p.Val132Met)

gnomAD frequency: 0.00001  dbSNP: rs137854545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000087090 SCV003443815 uncertain significance Combined deficiency of sialidase AND beta galactosidase 2022-04-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 150 of the CTSA protein (p.Val150Met). This variant is present in population databases (rs137854545, gnomAD 0.003%). This missense change has been observed in individual(s) with galactosialidosis (PMID: 8968752). ClinVar contains an entry for this variant (Variation ID: 383). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). Experimental studies have shown that this missense change affects CTSA function (PMID: 8968752). 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.
OMIM RCV000000414 SCV000020558 pathogenic Galactosialidosis, early infantile 1991-12-01 no assertion criteria provided literature only
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela RCV000087090 SCV000119947 pathogenic Combined deficiency of sialidase AND beta galactosidase no assertion criteria provided research

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