ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)

gnomAD frequency: 0.00245  dbSNP: rs148352371
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180165 SCV000232555 uncertain significance not provided 2015-05-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388131 SCV000439427 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Fulgent Genetics, Fulgent Genetics RCV000388131 SCV000896988 uncertain significance Metachromatic leukodystrophy 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000388131 SCV001018459 likely benign Metachromatic leukodystrophy 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927699 SCV004749770 benign ARSA-related condition 2019-03-26 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000388131 SCV001456228 benign Metachromatic leukodystrophy 2019-11-11 no assertion criteria provided clinical testing

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