ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr)

gnomAD frequency: 0.00159  dbSNP: rs143912353
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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, Illumina 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.
CeGaT Center for Human Genetics Tuebingen RCV003222073 SCV003917058 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MOCS1: BS1
Mayo Clinic Laboratories, Mayo Clinic 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, LabCorp 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.
GenomeConnect - Brain Gene Registry 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 -

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