ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met)

gnomAD frequency: 0.00158  dbSNP: rs147233112
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000853062 SCV000994992 uncertain significance not provided 2022-01-27 criteria provided, single submitter clinical testing Reported as T351M due to the use of alternative nomenclature in an individual with Parkinson disease; however, additional clinical information was not provided and a second ASAH1 variant was not described (Robak et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29140481)
Labcorp Genetics (formerly Invitae), Labcorp RCV000853062 SCV001098271 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001159010 SCV001320691 uncertain significance Farber lipogranulomatosis 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Mayo Clinic Laboratories, Mayo Clinic RCV000853062 SCV005409410 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000853062 SCV001742040 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000853062 SCV001922322 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000853062 SCV001972640 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004549916 SCV004762011 likely benign ASAH1-related disorders 2022-02-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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