ClinVar Miner

Submissions for variant NM_000308.4(CTSA):c.380A>T (p.Glu127Val)

dbSNP: rs2145815136
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960813 SCV002245186 uncertain significance Combined deficiency of sialidase AND beta galactosidase 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 145 of the CTSA protein (p.Glu145Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CTSA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1462956). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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