ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del)

dbSNP: rs748327074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002561025 SCV003277185 uncertain significance Fanconi anemia 2022-09-24 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 929648). This variant is also known as c.810_812delGTC. This variant has been observed in individual(s) with Fanconi anemia (PMID: 17436244). This variant is present in population databases (rs748327074, gnomAD 0.0009%). This variant, c.813_815del, results in the deletion of 1 amino acid(s) of the FANCD2 protein (p.Ser272del), but otherwise preserves the integrity of the reading frame.
Leiden Open Variation Database RCV001194909 SCV001364771 pathogenic Fanconi anemia complementation group D2 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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