ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)

gnomAD frequency: 0.00004  dbSNP: rs374537936
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano RCV001270236 SCV001364367 likely pathogenic Premature ovarian failure 2020-03-02 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001246139 SCV001419479 likely benign Fanconi anemia 2024-11-20 criteria provided, single submitter clinical testing
GeneDx RCV001751356 SCV001985735 uncertain significance not provided 2021-03-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in heterozygous state in an individuals with malignant pleural mesothelioma and pancreatic cancer in published literature (Betti et al., 2017; Shindo et al., 2017); This variant is associated with the following publications: (PMID: 28687356, 28767289, 32659497)
GenomeConnect, ClinGen RCV001824931 SCV002074907 not provided Fanconi anemia complementation group A no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 07-16-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Natera, Inc. RCV001246139 SCV002092511 uncertain significance Fanconi anemia 2020-07-08 no assertion criteria provided clinical testing

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