ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.11526G>A (p.Glu3842=) (rs35760114)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203921 SCV000261784 benign Alstrom syndrome 2017-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000420358 SCV000529304 benign not specified 2016-10-12 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 RCV000420358 SCV000711830 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Glu3840Glu in exon 16 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 6.48% (622/9602) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs35760114).
Integrated Genetics/Laboratory Corporation of America RCV000420358 SCV000864120 benign not specified 2016-02-15 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.11520G>A (alternative name c.11526G>A) affects a non-conserved nucleotide, resulting in a synonymous change. 3/5 programs in Alamut predict that this variant does not affect normal splicing. This variant was found in 723/118816 control chromosomes at a frequency of 0.006085, predominantly observed in African subpopulation in ExAC with MAF of 0.06478 with 21 homozygotes. This frequency exceeds the maximal expected frequency of a pathogenic allele (0.0022361), suggesting this variant is benign especially for Africans. This variant, to our knowledge, has not been reported in affected individuals via publications. One clinical laboratory (via ClinVar) classified this variant as benign, without evidence to independently evaluate. Taken together, this variant was classified as benign.

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