Submissions for variant NM_000135.4(FANCA):c.245G>A (p.Ser82Asn)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002640659	SCV003519273	uncertain significance	Fanconi anemia	2022-05-11	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 82 of the FANCA protein (p.Ser82Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. 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 not expected to disrupt FANCA protein function. 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	RCV002625132	SCV003585729	uncertain significance	Inborn genetic diseases	2021-11-12	criteria provided, single submitter	clinical testing	The c.245G>A (p.S82N) alteration is located in exon 3 (coding exon 3) of the FANCA gene. This alteration results from a G to A substitution at nucleotide position 245, causing the serine (S) at amino acid position 82 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.