Submissions for variant NM_002180.2(IGHMBP2):c.1669C>G (p.Pro557Ala) (rs7122089)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000517070	SCV000613765	uncertain significance	not specified	2017-04-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000766761	SCV000618154	uncertain significance	not provided	2018-12-11	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the IGHMBP2 gene. The P557A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P557A variant is observed in 30/10276 (0.3%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P557A variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae	RCV000766761	SCV000764352	likely benign	not provided	2019-02-05	criteria provided, single submitter	clinical testing