ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1084G>C (p.Val362Leu)

dbSNP: rs2040721687
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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 RCV001347727 SCV001542001 uncertain significance Fanconi anemia 2020-10-07 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SLX4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 362 of the SLX4 protein (p.Val362Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine.
Ambry Genetics RCV002547463 SCV003583528 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.1084G>C (p.V362L) alteration is located in exon 5 (coding exon 4) of the SLX4 gene. This alteration results from a G to C substitution at nucleotide position 1084, causing the valine (V) at amino acid position 362 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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