Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666302 | SCV000790571 | likely pathogenic | Metachromatic leukodystrophy | 2017-04-04 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000666302 | SCV000923448 | pathogenic | Metachromatic leukodystrophy | 2024-02-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000666302 | SCV001198547 | pathogenic | Metachromatic leukodystrophy | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 311 of the ARSA protein (p.Gly311Ser). This variant is present in population databases (rs74315459, gnomAD 0.01%). This missense change has been observed in individual(s) with metachromatic leukodystrophy (PMID: 8101038, 26462614, 28670130). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as Gly309Ser. ClinVar contains an entry for this variant (Variation ID: 3060). 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) performed at Invitae indicates that this missense variant is expected to disrupt ARSA protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ARSA function (PMID: 8101038). For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics, |
RCV000666302 | SCV001429286 | pathogenic | Metachromatic leukodystrophy | 2019-05-13 | criteria provided, single submitter | clinical testing | This variant was identified as homozygous |
Kariminejad - |
RCV001813940 | SCV001755533 | pathogenic | Abnormality of the nervous system | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Kasturba Medical College, |
RCV000666302 | SCV001963619 | pathogenic | Metachromatic leukodystrophy | criteria provided, single submitter | clinical testing | ||
Gene |
RCV002286693 | SCV002576955 | pathogenic | not provided | 2022-09-30 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate G309S results in a significant reduction in enzyme activity (Kreysing et al., 1993; Bhringer et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as p.G309S; This variant is associated with the following publications: (PMID: 8101038, 15326627, 33385934, 27289174, 28762252, 33547378, 33855715, 34426522, 33726816, 27535533) |
Ce |
RCV002286693 | SCV005092872 | pathogenic | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | ARSA: PM3:Strong, PM1, PM2, PM5, PS3:Supporting |
Institute of Medical Genetics and Applied Genomics, |
RCV000666302 | SCV005328383 | pathogenic | Metachromatic leukodystrophy | 2024-09-26 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003206 | SCV000023364 | pathogenic | Metachromatic leukodystrophy, late infantile form | 1993-08-01 | no assertion criteria provided | literature only | |
Genomic Research Center, |
RCV000714802 | SCV000845536 | uncertain significance | Pseudoarylsulfatase A deficiency | 2018-08-07 | flagged submission | clinical testing | |
Myelin Disorders Clinic- |
RCV000666302 | SCV001426665 | uncertain significance | Metachromatic leukodystrophy | no assertion criteria provided | clinical testing | ||
Natera, |
RCV000666302 | SCV002081649 | pathogenic | Metachromatic leukodystrophy | 2020-07-03 | no assertion criteria provided | clinical testing | |
Gelb Laboratory, |
RCV000666302 | SCV005046510 | not provided | Metachromatic leukodystrophy | no assertion provided | in vitro |