ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)

gnomAD frequency: 0.00016  dbSNP: rs372534421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987094 SCV001136292 likely benign Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001146800 SCV001307559 uncertain significance Fanconi anemia complementation group D2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001858660 SCV002196817 uncertain significance Fanconi anemia 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 373 of the FANCD2 protein (p.Ser373Leu). This variant is present in population databases (rs372534421, gnomAD 0.02%). 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: 801926). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCD2 protein function. 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.

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