Submissions for variant NM_205836.3(FBXO38):c.17A>G (p.Lys6Arg)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002761295	SCV003022613	uncertain significance	Distal hereditary motor neuropathy type 2	2022-10-17	criteria provided, single submitter	clinical testing	This variant is present in population databases (rs776031529, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of distal hereditary motor neuropathy (Invitae). 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 FBXO38 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. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 6 of the FBXO38 protein (p.Lys6Arg).
Ambry Genetics	RCV004067945	SCV003951042	uncertain significance	not specified	2023-06-07	criteria provided, single submitter	clinical testing	The c.17A>G (p.K6R) alteration is located in exon 2 (coding exon 1) of the FBXO38 gene. This alteration results from a A to G substitution at nucleotide position 17, causing the lysine (K) at amino acid position 6 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.