ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) (rs398122992)

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Total submissions: 3
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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 RCV000210462 SCV000266545 pathogenic Alstrom syndrome criteria provided, single submitter research
Invitae RCV000210462 SCV001587242 pathogenic Alstrom syndrome 2020-01-21 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with Alstrom syndrome (PMID: 26047050, 24595103). It has also been observed to segregate with disease in related individuals. This variant is also known as c.11110_11128del (p.R3704LfsX11) in the literature. ClinVar contains an entry for this variant (Variation ID: 92191). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). 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

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