ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.11449C>T (p.Gln3817Ter) (rs940576720)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760859 SCV000890755 pathogenic not provided 2018-12-03 criteria provided, single submitter clinical testing The Q3817X pathogenic variant in the ALMS1 gene has been reported in association with Alstrom syndrome, both as a homozygous variant and in conjunction with another loss of function variant in the ALMS1 gene (Collin et al., 2002; Minton et al., 2006; Sinha et al., 2007; Pereiro et al., 2011; Ozantürk et al., 2015; Astuti et al., 2017). This variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the ALMS1 gene have been reported in Human Gene Mutation Database in association with Alstrom syndrome (Stenson et al., 2014). Furthermore, the Q3817X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). In summary, Q3817X in the ALMS1 gene is interpreted as a pathogenic variant.
Invitae RCV001061071 SCV001225799 pathogenic Alstrom syndrome 2019-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3817*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Alstr m syndrome (PMID: 11941369, 18038714). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.

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