ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser) (rs372321470)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231368 SCV000291090 uncertain significance Fanconi anemia 2017-05-08 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 1476 of the SLX4 protein (p.Thr1476Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs372321470, ExAC <0.01%). This variant was reported in an individual affected with breast cancer (PMID: 22911665). ClinVar contains an entry for this variant (Variation ID: 241691). 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, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. It has been reported in both the population and an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,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.
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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