ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.1618G>A (p.Gly540Ser)

gnomAD frequency: 0.00002  dbSNP: rs771940326
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001298988 SCV001488061 uncertain significance Mucopolysaccharidosis, MPS-III-D 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 540 of the GNS protein (p.Gly540Ser). This variant is present in population databases (rs771940326, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GNS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1002543). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001836263 SCV002091710 uncertain significance Sanfilippo syndrome 2020-02-04 no assertion criteria provided clinical testing

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