ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12108C>G (p.Thr4036=) (rs767174517)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424951 SCV000533458 uncertain significance not provided 2016-11-04 criteria provided, single submitter clinical testing Although the c.12111 C>G variant is a synonymous change, one splicing algorithm suggests that this nucleotide substitution destroys the natural splice donor site in intron 19, and may lead to abnormal splicing. The c.12111 C>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.12111 C>G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Nonetheless, two other splicing algorithims predict no effect to the natural splice donor site in intron 19. Furthermore, this nucletotide substitution is not conserved across species. Segregation and functional mRNA studies are necessary to clarify the role of this variant in disease.
Invitae RCV001506189 SCV001711107 likely benign Alstrom syndrome 2020-08-30 criteria provided, single submitter clinical testing

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