ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3235C>T (p.Pro1079Ser)

gnomAD frequency: 0.00004  dbSNP: rs373231418
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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 RCV000697495 SCV000826110 uncertain significance Fanconi anemia 2022-12-26 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 575313). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs373231418, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1079 of the SLX4 protein (p.Pro1079Ser).
PreventionGenetics, part of Exact Sciences RCV003420237 SCV004106542 uncertain significance SLX4-related disorder 2023-06-14 criteria provided, single submitter clinical testing The SLX4 c.3235C>T variant is predicted to result in the amino acid substitution p.Pro1079Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-3640404-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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