ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) (rs770558150)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194023 SCV000246360 pathogenic Alstrom syndrome 2014-05-06 criteria provided, single submitter clinical testing
Counsyl RCV000194023 SCV000791607 pathogenic Alstrom syndrome 2017-05-18 criteria provided, single submitter clinical testing
Invitae RCV000194023 SCV000959107 pathogenic Alstrom syndrome 2018-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2146*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs770558150, ExAC 0.002%). This variant has been observed on the opposite chromosome (in trans) from other pathogenic variants in individuals affected with Alstrom syndrome (PMID: 25706677, Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 210129). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.

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