ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs)

dbSNP: rs2104104427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386725 SCV001587071 pathogenic Alstrom syndrome 2023-01-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073658). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr3541Ilefs*5) 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).
Ambry Genetics RCV002413916 SCV002713208 pathogenic Cardiovascular phenotype 2022-07-12 criteria provided, single submitter clinical testing The c.10622_10625delCAGA pathogenic mutation, located in coding exon 16 of the ALMS1 gene, results from a deletion of 4 nucleotides at nucleotide positions 10622 to 10625, causing a translational frameshift with a predicted alternate stop codon (p.T3541Ifs*5). 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.

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