ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs)

gnomAD frequency: 0.00001  dbSNP: rs398122992
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000210462 SCV000266545 pathogenic Alstrom syndrome criteria provided, single submitter research
Invitae RCV000210462 SCV001587242 pathogenic Alstrom syndrome 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3706Leufs*11) 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 (rs398122992, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 24595103, 26047050). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as c.11110_11128del (p.R3704LfsX11). ClinVar contains an entry for this variant (Variation ID: 92191). For these reasons, this variant has been classified as Pathogenic.
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University RCV000077807 SCV000109647 not provided not provided no assertion provided not provided
Natera, Inc. RCV000210462 SCV002078997 pathogenic Alstrom syndrome 2021-09-29 no assertion criteria provided clinical testing

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