ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.391A>T (p.Ile131Phe)

dbSNP: rs528340821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002032979 SCV002112646 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2024-10-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 131 of the MOCS1 protein (p.Ile131Phe). This variant is present in population databases (rs528340821, gnomAD 0.002%). 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: 1347097). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV004641704 SCV005138427 uncertain significance Inborn genetic diseases 2024-05-20 criteria provided, single submitter clinical testing The c.391A>T (p.I131F) alteration is located in exon 2 (coding exon 2) of the MOCS1 gene. This alteration results from a A to T substitution at nucleotide position 391, causing the isoleucine (I) at amino acid position 131 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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