Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000642134 | SCV000763787 | likely benign | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000642134 | SCV001316757 | uncertain significance | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Ce |
RCV003222073 | SCV003917058 | benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | MOCS1: BS1, BS2 |
Mayo Clinic Laboratories, |
RCV003222073 | SCV004227234 | uncertain significance | not provided | 2023-05-16 | criteria provided, single submitter | clinical testing | BS1, PP3 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003994058 | SCV004812955 | likely benign | not specified | 2024-02-12 | criteria provided, single submitter | clinical testing | Variant summary: MOCS1 c.1064T>C (p.Ile355Thr) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0018 in 1613824 control chromosomes in the gnomAD database, including 3 homozygotes. c.1064T>C has been reported in the literature in one individual affected with Molybdenum Cofactor Deficiency (Macaya_2005), as well as in one individual affected with Epilepsy (Gorukmez_2023). These reports do not provide unequivocal conclusions about association of the variant with Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 36964972, 36296488, 16429380, 21031595). ClinVar contains an entry for this variant (Variation ID: 534543). Based on the evidence outlined above, the variant was classified as likely benign. |
Genome |
RCV003222073 | SCV004801646 | not provided | not provided | no assertion provided | phenotyping only | Variant classified as Uncertain significance and reported on 06-25-2021 by Invitae. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/. | |
Prevention |
RCV004742552 | SCV005345508 | likely benign | MOCS1-related disorder | 2024-04-29 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |