ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.523G>A (p.Val175Ile)

gnomAD frequency: 0.00001  dbSNP: rs753921560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001327729 SCV001518816 uncertain significance Mucopolysaccharidosis, MPS-III-A 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 175 of the SGSH protein (p.Val175Ile). This variant is present in population databases (rs753921560, 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: 1027170). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SGSH 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 RCV001327729 SCV002045454 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546232 SCV003746396 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.523G>A (p.V175I) alteration is located in exon 5 (coding exon 5) of the SGSH gene. This alteration results from a G to A substitution at nucleotide position 523, causing the valine (V) at amino acid position 175 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001327729 SCV002095139 uncertain significance Mucopolysaccharidosis, MPS-III-A 2020-08-27 no assertion criteria provided clinical testing

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