ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs)

dbSNP: rs932538480
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673624 SCV000798849 likely pathogenic Alstrom syndrome 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV000673624 SCV001392084 pathogenic Alstrom syndrome 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val3906Glyfs*2) 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 (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 557476). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000673624 SCV001810259 likely pathogenic Alstrom syndrome 2021-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000673624 SCV002814173 likely pathogenic Alstrom syndrome 2021-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532150 SCV003553098 pathogenic Inborn genetic diseases 2020-12-28 criteria provided, single submitter clinical testing The c.11717_11720delTTGG (p.V3906Gfs*2) alteration, located in coding exon 18 of the ALMS1 gene, consists of a deletion of 4 nucleotides from position 11717 to 11720, causing a translational frameshift with a predicted alternate stop codon after 2 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic.

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