ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.960T>A (p.Ser320Arg)

gnomAD frequency: 0.00004  dbSNP: rs201528578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001294036 SCV001482803 uncertain significance Fanconi anemia complementation group E 2019-02-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001294036 SCV003027443 uncertain significance Fanconi anemia complementation group E 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 320 of the FANCE protein (p.Ser320Arg). This variant is present in population databases (rs201528578, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FANCE-related conditions. ClinVar contains an entry for this variant (Variation ID: 998260). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FANCE protein function with a positive predictive value of 80%. 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.
Ambry Genetics RCV002543023 SCV003592690 uncertain significance Inborn genetic diseases 2021-11-08 criteria provided, single submitter clinical testing The c.960T>A (p.S320R) alteration is located in exon 4 (coding exon 4) of the FANCE gene. This alteration results from a T to A substitution at nucleotide position 960, causing the serine (S) at amino acid position 320 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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