ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.707C>T (p.Thr236Ile)

gnomAD frequency: 0.00003  dbSNP: rs201036100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001157019 SCV001318565 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001157019 SCV001544273 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 236 of the MOCS1 protein (p.Thr236Ile). This variant is present in population databases (rs201036100, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MOCS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 907292). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002559509 SCV003543896 uncertain significance Inborn genetic diseases 2021-04-09 criteria provided, single submitter clinical testing The c.707C>T (p.T236I) alteration is located in exon 5 (coding exon 5) of the MOCS1 gene. This alteration results from a C to T substitution at nucleotide position 707, causing the threonine (T) at amino acid position 236 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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