ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1874A>G (p.His625Arg) (rs41291187)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230674 SCV000290074 benign Alstrom syndrome 2017-07-28 criteria provided, single submitter clinical testing
GeneDx RCV000424178 SCV000524335 likely benign not specified 2017-10-27 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445409 SCV000536965 benign Monogenic diabetes 2015-11-20 criteria provided, single submitter research ACMG Criteria: BS1 (ExAC, type2diabetesgenetics.org), BS2, BP1, BP4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000424178 SCV000711876 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.His623Arg in exon 8 of ALMS1: This variant is not expected to have clinical si gnificance because it has been identified in 2.88% (1921/66716) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs41291187).
Integrated Genetics/Laboratory Corporation of America RCV000424178 SCV000864108 benign not specified 2017-04-10 criteria provided, single submitter clinical testing Variant summary: The ALMS1 c.1868A>G (p.His623Arg, alternative name c.1874A>G) variant involves the alteration of a non-conserved nucleotide and 3/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a benign outcome for this variant. This variant was found in 2291/120716 control chromosomes (31 homozygotes) at a frequency of 0.0189784, which is approximately 8 times the estimated maximal expected allele frequency of a pathogenic ALMS1 variant (0.0022361), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories classified this variant as "likely benign/benign." Therefore, the variant of interest has been classified as "benign."

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