ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.10775del (p.Thr3592fs) (rs387906312)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726756 SCV000702798 pathogenic not provided 2016-11-17 criteria provided, single submitter clinical testing
Invitae RCV000004177 SCV000944254 pathogenic Alstrom syndrome 2018-11-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr3592Lysfs*6) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs387906312, ExAC 0.02%). This variant has been observed in multiple individuals and families affected with ALMS1-related conditions (PMID: 11941370, 11941369, 25846608). ClinVar contains an entry for this variant (Variation ID: 3971). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004177 SCV000024343 pathogenic Alstrom syndrome 2007-11-01 no assertion criteria provided literature only

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