ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5719C>T (p.Gln1907Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV004775656 SCV005382633 pathogenic Alstrom syndrome 2021-08-05 criteria provided, single submitter clinical testing This nonsense variant (c.5722C>T; p.Gln1908*) has not been reported in population databases (gnomAD) and has not been described in the literature. It was found in an unaffected parent of an affected individual. The proband carries this change as well as an ALMS1 framshift variation (c.793dupA, p.Thr265Asnfs*2) in trans.

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