ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.140C>G (p.Ala47Gly)

dbSNP: rs779961693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804951 SCV000944891 uncertain significance Multiple sulfatase deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 47 of the SUMF1 protein (p.Ala47Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with SUMF1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000804951 SCV002079173 uncertain significance Multiple sulfatase deficiency 2021-05-03 no assertion criteria provided clinical testing

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