ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.4156dup (p.Thr1386fs) (rs797045228)

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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 RCV000194605 SCV000246358 pathogenic Alstrom syndrome 2014-05-06 criteria provided, single submitter clinical testing
Counsyl RCV000194605 SCV000790750 pathogenic Alstrom syndrome 2017-04-06 criteria provided, single submitter clinical testing
Invitae RCV000194605 SCV000950098 pathogenic Alstrom syndrome 2018-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1386Asnfs*15) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs757011587, ExAC 0.001%). This variant has been observed to be homozygous or in combination with another ALMS1 variant in several individuals affected with Alstrom syndrome (PMID: 25706677, 25296579, 23188138, 28432734). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 210127). 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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