ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer)

dbSNP: rs1372103295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036822 SCV001200205 pathogenic Alstrom syndrome 2023-06-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 835838). This premature translational stop signal has been observed in individual(s) with Alström syndrome (PMID: 17594715). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu3559*) 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).
Natera, Inc. RCV001036822 SCV002078983 pathogenic Alstrom syndrome 2021-10-06 no assertion criteria provided clinical testing

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