ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)

dbSNP: rs1064793391
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481019 SCV000565997 likely pathogenic not provided 2022-06-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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: 30124108, 28720891, 31130284, 28454995)
Baylor Genetics RCV000723283 SCV001522292 pathogenic Multiple sulfatase deficiency 2020-04-14 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV000723283 SCV001591305 pathogenic Multiple sulfatase deficiency 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 262 of the SUMF1 protein (p.Gln262Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with multiple sulfatase deficiency (PMID: 28454995, 30124108). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 418724). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SUMF1 protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000723283 SCV002027601 pathogenic Multiple sulfatase deficiency 2021-09-05 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000723283 SCV005038888 likely pathogenic Multiple sulfatase deficiency 2025-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624193 SCV000742689 uncertain significance Inborn genetic diseases 2017-08-15 flagged submission clinical testing Lines of evidence used in support of classification: NEGATIVE - No Relevant Alterations Detected (Step 2)
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723283 SCV000854672 pathogenic Multiple sulfatase deficiency 2018-05-03 no assertion criteria provided clinical testing

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