ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=)

gnomAD frequency: 0.00002  dbSNP: rs776254949
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721420 SCV000533634 likely benign not provided 2020-01-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000437891 SCV001653067 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Lys2146Lys in exon 8 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.03% (5/16438) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs776254949).
Invitae RCV001469671 SCV001673753 likely benign Alstrom syndrome 2023-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365560 SCV002657447 likely benign Cardiovascular phenotype 2020-10-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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