Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002924333 | SCV003660744 | uncertain significance | Inborn genetic diseases | 2024-07-27 | criteria provided, single submitter | clinical testing | The c.6G>T (p.W2C) alteration is located in exon 1 (coding exon 1) of the MOCS1 gene. This alteration results from a G to T substitution at nucleotide position 6, causing the tryptophan (W) at amino acid position 2 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003388165 | SCV004100281 | uncertain significance | not specified | 2023-09-29 | criteria provided, single submitter | clinical testing | Variant summary: MOCS1 c.6G>T (p.Trp2Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0001 in 244980 control chromosomes (gnomAD). To our knowledge, no occurrence of c.6G>T in individuals affected with Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Fulgent Genetics, |
RCV005036588 | SCV005668715 | uncertain significance | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2024-06-21 | criteria provided, single submitter | clinical testing |