ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1991C>T (p.Pro664Leu)

gnomAD frequency: 0.00002  dbSNP: rs369805557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001788961 SCV002030190 uncertain significance Fanconi anemia complementation group P 2021-11-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001868889 SCV002291612 uncertain significance Fanconi anemia 2023-04-14 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. 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 leucine 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: 1327081). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs369805557, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 664 of the SLX4 protein (p.Pro664Leu).

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