ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter)

gnomAD frequency: 0.00001  dbSNP: rs192823093
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384457 SCV001583957 pathogenic Alstrom syndrome 2023-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3585*) 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 (rs192823093, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 17594715). ClinVar contains an entry for this variant (Variation ID: 1071888). For these reasons, this variant has been classified as Pathogenic.

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