ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1301C>T (p.Ala434Val)

gnomAD frequency: 0.00006  dbSNP: rs76375023
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000676147 SCV000801894 uncertain significance not provided 2022-02-25 criteria provided, single submitter clinical testing BP4, PM2
Invitae RCV001063475 SCV001228322 uncertain significance Mucopolysaccharidosis, MPS-III-A 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 434 of the SGSH protein (p.Ala434Val). This variant is present in population databases (rs76375023, gnomAD 0.04%). 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: 559102). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV001063475 SCV002045132 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000676147 SCV002588259 uncertain significance not provided 2022-04-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002532173 SCV003748306 uncertain significance Inborn genetic diseases 2021-08-11 criteria provided, single submitter clinical testing The c.1301C>T (p.A434V) alteration is located in exon 8 (coding exon 8) of the SGSH gene. This alteration results from a C to T substitution at nucleotide position 1301, causing the alanine (A) at amino acid position 434 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001063475 SCV001459562 uncertain significance Mucopolysaccharidosis, MPS-III-A 2020-01-17 no assertion criteria provided clinical testing

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