ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.943G>A (p.Val315Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003522423 SCV004278233 uncertain significance Fanconi anemia 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 315 of the SLX4 protein (p.Val315Met). This variant is present in population databases (rs774265549, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of SLX4-related conditions (PMID: 32368696). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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