Submissions for variant NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)

gnomAD frequency: 0.00180  dbSNP: rs137917233

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000286229	SCV000444466	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.
GeneDx	RCV001573460	SCV000589359	likely benign	not provided	2018-11-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29375859)
Fulgent Genetics, Fulgent Genetics	RCV000286229	SCV000895579	uncertain significance	Multiple sulfatase deficiency	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000286229	SCV001107643	likely benign	Multiple sulfatase deficiency	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000286229	SCV002027602	likely benign	Multiple sulfatase deficiency	2021-09-05	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001573460	SCV004226042	uncertain significance	not provided	2022-04-20	criteria provided, single submitter	clinical testing
Molecular Genetics Lab, CHRU Brest	RCV000286229	SCV004697669	uncertain significance	Multiple sulfatase deficiency		criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003969995	SCV004794221	likely benign	SUMF1-related disorder	2022-04-13	criteria provided, single submitter	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).
Natera, Inc.	RCV000286229	SCV001460622	likely benign	Multiple sulfatase deficiency	2020-04-23	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573460	SCV001799370	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001573460	SCV001959002	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573460	SCV001972152	uncertain significance	not provided		no assertion criteria provided	clinical testing