Submissions for variant NM_001358530.2(MOCS1):c.595G>A (p.Val199Ile)

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Minimum conflict level: Report conflict between different conditions
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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	RCV003110267	SCV003780077	uncertain significance	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	2022-09-27	criteria provided, single submitter	clinical testing	This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 199 of the MOCS1 protein (p.Val199Ile). This variant is present in population databases (rs377241570, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with MOCS1-related conditions. 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.
Fulgent Genetics, Fulgent Genetics	RCV003110267	SCV005668673	uncertain significance	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	2024-03-11	criteria provided, single submitter	clinical testing

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