ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter)

dbSNP: rs375019820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666520 SCV000790825 likely pathogenic Alstrom syndrome 2017-04-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000666520 SCV002786668 pathogenic Alstrom syndrome 2022-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666520 SCV003293596 pathogenic Alstrom syndrome 2022-06-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3517*) 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: 551455). This premature translational stop signal has been observed in individual(s) with Alström syndrome (PMID: 17594715, 32531870). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency).

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