ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val)

gnomAD frequency: 0.00015  dbSNP: rs138587722
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001931722 SCV002214462 uncertain significance Fanconi anemia 2022-09-02 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 270 of the FANCD2 protein (p.Leu270Val). This variant is present in population databases (rs138587722, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1436760). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002484675 SCV002781401 uncertain significance Fanconi anemia complementation group D2 2022-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561553 SCV003686085 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.808T>G (p.L270V) alteration is located in exon 11 (coding exon 10) of the FANCD2 gene. This alteration results from a T to G substitution at nucleotide position 808, causing the leucine (L) at amino acid position 270 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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