Submissions for variant NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs)

dbSNP: rs1034630858

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000503357	SCV000593119	pathogenic	Alstrom syndrome	2015-12-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000503357	SCV000796345	pathogenic	Alstrom syndrome	2017-12-12	criteria provided, single submitter	clinical testing
Invitae	RCV000503357	SCV001581355	pathogenic	Alstrom syndrome	2023-12-12	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ser2191Metfs*15) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 11941370, 29193673). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 434133). For these reasons, this variant has been classified as Pathogenic.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724029	SCV001952410	pathogenic	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001724029	SCV001963113	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724029	SCV001967941	pathogenic	not provided		no assertion criteria provided	clinical testing