ClinVar Miner

Submissions for variant NM_003366.4(UQCRC2):c.416A>G (p.Asn139Ser)

gnomAD frequency: 0.00006  dbSNP: rs529456792
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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 RCV001919122 SCV002181989 uncertain significance not provided 2021-06-10 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 139 of the UQCRC2 protein (p.Asn139Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs529456792, ExAC 0.03%). This variant has not been reported in the literature in individuals with UQCRC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
GeneDx RCV001919122 SCV005388300 uncertain significance not provided 2024-03-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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