ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)

gnomAD frequency: 0.00001  dbSNP: rs749339938
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075441 SCV001241064 likely pathogenic Retinal dystrophy 2018-08-28 criteria provided, single submitter clinical testing
Invitae RCV001862613 SCV002238690 pathogenic Alstrom syndrome 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1819*) 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 (rs749339938, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with clinical features of Alstrom syndrome (PMID: 25846608). ClinVar contains an entry for this variant (Variation ID: 866994). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001862613 SCV002809882 likely pathogenic Alstrom syndrome 2021-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003293870 SCV003994218 pathogenic Cardiovascular phenotype 2023-05-19 criteria provided, single submitter clinical testing The p.R1819* pathogenic mutation (also known as c.5455C>T), located in coding exon 8 of the ALMS1 gene, results from a C to T substitution at nucleotide position 5455. This changes the amino acid from an arginine to a stop codon within coding exon 8. This alteration has been reported in an Alström syndrome cohort (Marshall JD et al. Hum Mutat, 2015 Jul;36:660-8). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Clinical Genetics, Academic Medical Center RCV001700694 SCV001918205 likely pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700694 SCV001929039 likely pathogenic not provided no assertion criteria provided clinical testing

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