Submissions for variant NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu)

gnomAD frequency: 0.00001  dbSNP: rs777477439

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV002298625	SCV002588318	uncertain significance	not provided	2022-04-25	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Located in exon 38, which is reported as being expressed in a brain-specific transcript (Otto et al, 1991; Cunha et al, 2008; Wu et al, 2015)
Ambry Genetics	RCV002420262	SCV002681138	likely benign	Cardiovascular phenotype	2018-08-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Dept of Molecular Biology and Genetics, Bogazici University	RCV000585778	SCV000583429	likely benign	Oligosynaptic infertility; Acromesomelic dysplasia 2B		no assertion criteria provided	research