ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2335G>A (p.Val779Met)

gnomAD frequency: 0.00011  dbSNP: rs768126392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982413 SCV002221174 uncertain significance Fanconi anemia 2024-01-31 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 779 of the SLX4 protein (p.Val779Met). This variant is present in population databases (rs768126392, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1444434). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly 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.
Fulgent Genetics, Fulgent Genetics RCV002492067 SCV002783155 uncertain significance Fanconi anemia complementation group P 2021-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004043682 SCV004953282 uncertain significance Inborn genetic diseases 2024-02-17 criteria provided, single submitter clinical testing The c.2335G>A (p.V779M) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a G to A substitution at nucleotide position 2335, causing the valine (V) at amino acid position 779 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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