ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7541-6C>T (rs1408073039)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672158 SCV000797233 uncertain significance Alstrom syndrome 2018-01-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193271 SCV001362002 uncertain significance not specified 2019-03-12 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.7538-6C>T (also known as c.7544-6C>T) alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 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 4.1e-06 in 245690 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.7538-6C>T in individuals affected with Cardiomyopathy/Alstrom syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000672158 SCV001652275 likely benign Alstrom syndrome 2020-08-20 criteria provided, single submitter clinical testing

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