ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.466-7G>C

gnomAD frequency: 0.00294  dbSNP: rs6151414
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487951 SCV000575335 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing ARSA: BP4, BS2
GeneDx RCV000487951 SCV000968608 likely benign not provided 2021-06-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083981 SCV001019232 benign Metachromatic leukodystrophy 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001083981 SCV001305143 uncertain significance Metachromatic leukodystrophy 2018-01-12 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 RCV000487951 SCV001715403 uncertain significance not provided 2019-09-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083981 SCV001456239 likely benign Metachromatic leukodystrophy 2020-01-02 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003972814 SCV004789160 likely benign ARSA-related disorder 2019-12-16 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).
Gelb Laboratory, University of Washington RCV001083981 SCV005046725 not provided Metachromatic leukodystrophy no assertion provided in vitro

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