Submissions for variant NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp)

gnomAD frequency: 0.00041  dbSNP: rs377167949

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000998597	SCV001154739	likely pathogenic	not provided	2019-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001154614	SCV001315990	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics	RCV001154614	SCV001523541	uncertain significance	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	2019-03-29	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp	RCV001154614	SCV001611519	likely benign	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	2024-12-24	criteria provided, single submitter	clinical testing