ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=) (rs55889738)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000173443 SCV000224558 likely benign not specified 2014-08-21 criteria provided, single submitter clinical testing
Invitae RCV001079667 SCV000261994 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224308 SCV000280788 likely benign not provided 2016-03-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000173443 SCV000297249 benign not specified 2015-09-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173443 SCV000312405 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000224308 SCV000569352 benign not provided 2017-08-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000173443 SCV000864082 benign not specified 2018-03-12 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.72_74delGGA (p.Glu29del, alternative name c.75_77delGGA) results in an in-frame deletion that is predicted to remove one amino acid from the repetitive region of the encoded protein. The variant allele was found at a frequency of 0.058 in 118306 control chromosomes in the gnomAD database, including 292 homozygotes. The observed variant frequency is approximately 26.064 fold of the estimated maximal expected allele frequency for a pathogenic variant in ALMS1 causing Cardiomyopathy phenotype (0.0022), strongly suggesting that the variant is benign. c.72_74delGGA has been reported in the literature in affected individuals with comparible frequency as in controls. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.

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