Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
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- |
RCV001063475 | SCV002045132 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
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, |
RCV001063475 | SCV001459562 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2020-01-17 | no assertion criteria provided | clinical testing |