ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2347G>A (p.Val783Ile)

dbSNP: rs771580450
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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 RCV000542975 SCV000626409 uncertain significance Fanconi anemia 2023-03-14 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 456301). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 783 of the SLX4 protein (p.Val783Ile).
Ambry Genetics RCV004023748 SCV004953283 uncertain significance Inborn genetic diseases 2023-12-20 criteria provided, single submitter clinical testing The c.2347G>A (p.V783I) 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 2347, causing the valine (V) at amino acid position 783 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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