Submissions for variant NM_001081.4(CUBN):c.6490C>T (p.Pro2164Ser)

gnomAD frequency: 0.00018  dbSNP: rs199915629

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003506006	SCV004266113	likely benign	Imerslund-Grasbeck syndrome	2024-11-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004369035	SCV004854044	uncertain significance	Inborn genetic diseases	2023-10-02	criteria provided, single submitter	clinical testing	The c.6490C>T (p.P2164S) alteration is located in exon 43 (coding exon 43) of the CUBN gene. This alteration results from a C to T substitution at nucleotide position 6490, causing the proline (P) at amino acid position 2164 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV004697299	SCV005197669	uncertain significance	not provided	2022-05-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004741619	SCV005349899	likely benign	CUBN-related disorder	2024-07-15	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).