ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1306C>A (p.Leu436Met)

gnomAD frequency: 0.00004  dbSNP: rs373898927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035932 SCV001199272 uncertain significance Fanconi anemia 2019-12-03 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FANCD2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces leucine with methionine at codon 436 of the FANCD2 protein (p.Leu436Met). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and methionine.
Fulgent Genetics, Fulgent Genetics RCV002479236 SCV002777521 uncertain significance Fanconi anemia complementation group D2 2021-09-11 criteria provided, single submitter clinical testing

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