ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup)

dbSNP: rs746896173
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459727 SCV000541352 benign Alstrom syndrome 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001696869 SCV000722179 likely benign not provided 2020-08-03 criteria provided, single submitter clinical testing
Counsyl RCV000459727 SCV000789818 uncertain significance Alstrom syndrome 2017-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379410 SCV002697607 likely benign Cardiovascular phenotype 2022-01-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003114577 SCV003801096 likely benign not specified 2023-01-30 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.100_105dupGCGGCG/p.Ala34_Ala35dup (c.103_108dupGCGGCG/p.Ala35_Ala36dup) results in an in-frame duplication that is predicted to duplicate 2 amino acids into the encoded protein. The variant allele was found at a frequency of 0.00051 in 139126 control chromosomes, predominantly at a frequency of 0.0024 within the Latino subpopulation in the gnomAD database. The observed variant frequency within Latino control individuals in the gnomAD database is slightly higher than the estimated maximal expected allele frequency for a pathogenic variant in ALMS1 causing Alstrom Syndrome With Dilated Cardiomyopathy phenotype (0.0018), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Latino origin. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments (likely benign n=2, VUS n=2). Based on the evidence outlined above, the variant was classified as likely benign.

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