ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2278A>G (p.Thr760Ala)

dbSNP: rs2040607353
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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 RCV001351107 SCV001545546 uncertain significance Fanconi anemia 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 760 of the SLX4 protein (p.Thr760Ala). This variant is not present in population databases (gnomAD no frequency). 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: 1046537). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine 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.
Ambry Genetics RCV004671363 SCV005167140 uncertain significance Inborn genetic diseases 2024-05-02 criteria provided, single submitter clinical testing The c.2278A>G (p.T760A) alteration is located in exon 11 (coding exon 10) of the SLX4 gene. This alteration results from a A to G substitution at nucleotide position 2278, causing the threonine (T) at amino acid position 760 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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