ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1846G>A (p.Val616Met)

gnomAD frequency: 0.00004  dbSNP: rs199863797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001301201 SCV001490363 uncertain significance Fanconi anemia 2023-08-10 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 methionine 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: 1004496). This missense change has been observed in individual(s) with breast cancer (PMID: 22401137). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 616 of the SLX4 protein (p.Val616Met).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238339 SCV002010335 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001760353 SCV002789259 uncertain significance Fanconi anemia complementation group P 2021-12-08 criteria provided, single submitter clinical testing

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