ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) (rs137852846)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000002785 SCV000930172 likely pathogenic Multiple sulfatase deficiency 2019-04-27 criteria provided, single submitter clinical testing
Invitae RCV000002785 SCV001382363 pathogenic Multiple sulfatase deficiency 2019-06-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 349 of the SUMF1 protein (p.Arg349Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs137852846, ExAC 0.002%). This variant has been observed in several individuals affected with multiple sulfatase deficiency (PMID: 12757706, 25373814, 15146462, 12757705, 18157819, 17881260, 24484558, 25885655). ClinVar contains an entry for this variant (Variation ID: 2666). This variant has been reported to affect SUMF1 protein function (PMID: 15146462, 18157819, 17657823). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002785 SCV000022943 pathogenic Multiple sulfatase deficiency 2003-05-16 no assertion criteria provided literature only
GeneReviews RCV000002785 SCV000899285 pathogenic Multiple sulfatase deficiency 2019-01-03 no assertion criteria provided literature only

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