Submissions for variant NM_057176.3(BSND):c.1A>T (p.Met1Leu)

dbSNP: rs74315284

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, University Hospital Muenster	RCV000004630	SCV002496120	pathogenic	Bartter disease type 4A	2022-01-24	criteria provided, single submitter	clinical testing	ACMG categories: PVS1,PM2,PP5
Invitae	RCV001579751	SCV003523226	pathogenic	not provided	2022-09-05	criteria provided, single submitter	clinical testing	This sequence change affects the initiator methionine of the BSND mRNA. The next in-frame methionine is located at codon 26. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BSND protein in which other variant(s) (p.Ile12Thr) have been determined to be pathogenic (PMID: 19646679, 21541222). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 4380). This variant is also known as A1T. Disruption of the initiator codon has been observed in individuals with Bartter syndrome (PMID: 11687798, 16773427). This variant is present in population databases (rs74315284, gnomAD 0.0009%).
OMIM	RCV000004630	SCV000024804	pathogenic	Bartter disease type 4A	2001-11-01	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579751	SCV001808385	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001579751	SCV001951972	pathogenic	not provided		no assertion criteria provided	clinical testing