ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.964A>G (p.Ile322Val)

gnomAD frequency: 0.00010  dbSNP: rs151243903
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244968 SCV001418225 uncertain significance Mucopolysaccharidosis, MPS-III-A 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 322 of the SGSH protein (p.Ile322Val). This variant is present in population databases (rs151243903, gnomAD 0.02%). 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: 969584). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine 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.
Genome-Nilou Lab RCV001244968 SCV002045151 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568608 SCV003728702 uncertain significance Inborn genetic diseases 2022-03-16 criteria provided, single submitter clinical testing The c.964A>G (p.I322V) alteration is located in exon 8 (coding exon 8) of the SGSH gene. This alteration results from a A to G substitution at nucleotide position 964, causing the isoleucine (I) at amino acid position 322 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001244968 SCV002095124 uncertain significance Mucopolysaccharidosis, MPS-III-A 2020-01-24 no assertion criteria provided clinical testing

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