Submissions for variant NM_002234.4(KCNA5):c.859_860delinsTT (p.Ala287Leu)

dbSNP: rs1565465582

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000732300	SCV000860233	uncertain significance	not provided	2018-03-05	criteria provided, single submitter	clinical testing
Invitae	RCV001047238	SCV001211178	uncertain significance	Atrial fibrillation, familial, 7	2023-11-23	criteria provided, single submitter	clinical testing	This sequence change replaces alanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 287 of the KCNA5 protein (p.Ala287Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with KCNA5-related conditions. ClinVar contains an entry for this variant (Variation ID: 596455). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx	RCV000732300	SCV002562647	likely benign	not provided	2022-08-09	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics	RCV001047238	SCV002784077	uncertain significance	Atrial fibrillation, familial, 7	2021-08-30	criteria provided, single submitter	clinical testing
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine	RCV002285171	SCV002575036	uncertain significance	Pulmonary arterial hypertension	2022-09-26	no assertion criteria provided	clinical testing