ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser)

gnomAD frequency: 0.00002  dbSNP: rs372321470
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231368 SCV000291090 uncertain significance Fanconi anemia 2023-01-15 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: "Tolerated"; 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: 241691). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs372321470, gnomAD 0.004%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1476 of the SLX4 protein (p.Thr1476Ser).
Illumina Laboratory Services, Illumina RCV001116752 SCV001274881 uncertain significance Fanconi anemia complementation group P 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV001116752 SCV002815272 uncertain significance Fanconi anemia complementation group P 2021-10-07 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194856 SCV001364689 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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