ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001428652 SCV001631354 likely benign Alstrom syndrome 2020-10-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001526909 SCV001737661 likely benign not specified 2021-06-01 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.8958T>A results in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 5.2e-05 in 249542 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in ALMS1 causing Alstrom Syndrome With Dilated Cardiomyopathy (5.2e-05 vs 0.0018), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.8958T>A in individuals affected with Alstrom Syndrome With Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.

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