ClinVar Miner

Submissions for variant NC_000002.11:g.(?_73635740)_(73786279_?)del

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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 RCV001951167 SCV002237709 pathogenic Alstrom syndrome 2021-04-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 27486776). This variant is a gross deletion of the genomic region encompassing exon(s) 2-15 of the ALMS1 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715).

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