ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.519A>G (p.Ala173=)

gnomAD frequency: 0.00042  dbSNP: rs146050361
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000356243 SCV000444470 uncertain significance Multiple sulfatase deficiency 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.
Invitae RCV000356243 SCV001050832 likely benign Multiple sulfatase deficiency 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000906209 SCV001153749 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000356243 SCV002027604 likely benign Multiple sulfatase deficiency 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000356243 SCV001460625 likely benign Multiple sulfatase deficiency 2019-10-28 no assertion criteria provided clinical testing

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