ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly)

gnomAD frequency: 0.00001  dbSNP: rs764507146
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003635944 SCV004459409 pathogenic Fanconi anemia 2023-06-29 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Fanconi anemia (PMID: 11239453). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Studies have shown that this missense change results in retention of 13 nucleotides from intron 5 and introduces a premature termination codon (PMID: 11239453). The resulting mRNA is expected to undergo nonsense-mediated decay. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 929642). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 126 of the FANCD2 protein (p.Ser126Gly). RNA analysis indicates that this missense change induces altered splicing and may result in an absent or disrupted protein product.
Baylor Genetics RCV001194901 SCV005057643 pathogenic Fanconi anemia complementation group D2 2024-01-02 criteria provided, single submitter clinical testing
OMIM RCV001194901 SCV000033059 pathogenic Fanconi anemia complementation group D2 2001-02-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV001194901 SCV001364763 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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