ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) (rs753700179)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672199 SCV000797280 likely pathogenic Fanconi anemia, complementation group A 2018-01-23 criteria provided, single submitter clinical testing
Invitae RCV001222479 SCV001394578 likely pathogenic Fanconi anemia 2019-09-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 1305 of the FANCA protein (p.Leu1305Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs753700179, ExAC 0.01%). This variant has been observed in individuals with Fanconi anemia (PMID: 21273304, 29098742, 19278965, 29904161). ClinVar contains an entry for this variant (Variation ID: 556224). 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"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000672199 SCV000886139 pathogenic Fanconi anemia, complementation group A 2019-02-14 no assertion criteria provided literature only
Leiden Open Variation Database RCV000672199 SCV001426122 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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