ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.19G>A (p.Ala7Thr)

gnomAD frequency: 0.00013  dbSNP: rs548145029
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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 RCV001866979 SCV002121025 uncertain significance Mucopolysaccharidosis, MPS-III-A 2022-07-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 7 of the SGSH protein (p.Ala7Thr). This variant is present in population databases (rs548145029, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with SGSH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1355556). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The threonine 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.
Revvity Omics, Revvity RCV001866979 SCV003819984 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-08-05 criteria provided, single submitter clinical testing

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