ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr)

gnomAD frequency: 0.00030  dbSNP: rs199785411
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487856 SCV000575547 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing ASAH1: PM2:Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV000487856 SCV001386430 uncertain significance not provided 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 126 of the ASAH1 protein (p.Pro126Thr). This variant is present in population databases (rs199785411, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with ASAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 425437). 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 not expected to disrupt ASAH1 protein function with a negative predictive value of 80%. 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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270068 SCV001448839 uncertain significance Farber lipogranulomatosis 2019-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489187 SCV002786915 uncertain significance Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber lipogranulomatosis 2021-07-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000487856 SCV003825064 uncertain significance not provided 2021-08-10 criteria provided, single submitter clinical testing

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