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
Labcorp Genetics (formerly Invitae), Labcorp 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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