ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe)

dbSNP: rs551306400
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463828 SCV000547750 uncertain significance Fanconi anemia 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1313 of the FANCA protein (p.Leu1313Phe). This variant is present in population databases (rs551306400, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 408178). 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. 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.
GeneDx RCV002464202 SCV002759258 uncertain significance not provided 2022-11-29 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002525563 SCV003740798 uncertain significance Inborn genetic diseases 2022-05-16 criteria provided, single submitter clinical testing The c.3937C>T (p.L1313F) alteration is located in exon 40 (coding exon 40) of the FANCA gene. This alteration results from a C to T substitution at nucleotide position 3937, causing the leucine (L) at amino acid position 1313 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000463828 SCV002092491 uncertain significance Fanconi anemia 2020-02-21 no assertion criteria provided clinical testing

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