ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs)

dbSNP: rs748709116
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074127 SCV001239696 likely pathogenic Retinal dystrophy 2019-01-15 criteria provided, single submitter clinical testing
Invitae RCV001211998 SCV001383568 pathogenic Alstrom syndrome 2022-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1725Thrfs*7) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 866267). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is present in population databases (rs748709116, gnomAD 0.004%).
Ambry Genetics RCV002339360 SCV002643116 pathogenic Cardiovascular phenotype 2021-08-26 criteria provided, single submitter clinical testing The c.5172dupA pathogenic mutation, located in coding exon 8 of the ALMS1 gene, results from a duplication of A at nucleotide position 5172, causing a translational frameshift with a predicted alternate stop codon (p.Q1725Tfs*7). 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.
GeneDx RCV003232213 SCV003930218 likely pathogenic not provided 2023-05-28 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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