ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4820del (p.Lys1607fs)

dbSNP: rs758098717
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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 RCV001219122 SCV001391043 pathogenic Alstrom syndrome 2023-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1608Argfs*9) 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 (rs758098717, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 25846608). ClinVar contains an entry for this variant (Variation ID: 947961). For these reasons, this variant has been classified as Pathogenic.

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