ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.716C>T (p.Ala239Val)

gnomAD frequency: 0.00001  dbSNP: rs749779839
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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 RCV001965335 SCV002211824 uncertain significance Fanconi anemia 2022-03-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 239 of the FANCI protein (p.Ala239Val). This variant is present in population databases (rs749779839, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002479524 SCV002780575 uncertain significance Fanconi anemia complementation group I 2022-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003167427 SCV003907669 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.716C>T (p.A239V) alteration is located in exon 9 (coding exon 8) of the FANCI gene. This alteration results from a C to T substitution at nucleotide position 716, causing the alanine (A) at amino acid position 239 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004694019 SCV005193971 uncertain significance not provided criteria provided, single submitter not provided

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