ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1164T>C (p.His388=) (rs191091347)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605295 SCV000719292 likely benign not specified 2017-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000605295 SCV000967147 likely benign not specified 2018-02-22 criteria provided, single submitter clinical testing p.His387His in exon 5 of ALMS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, it is not located wi thin the splice consensus sequence, and it is not predicted to impact splicing. It has been identified in 0.16% (16/9792) of African chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs191091347). ACMG/AMP Criteria applied: BP4, BP7.
Invitae RCV000865870 SCV001006896 likely benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing

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