ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.4811C>G (p.Pro1604Arg) (rs1572935792)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825282 SCV000966574 uncertain significance not specified 2018-06-12 criteria provided, single submitter clinical testing The p.Pro1604Arg variant in ALMS1 has not been previously reported in individual s with Alstrom syndrome or hearing loss, and was absent from large population st udies. Computational prediction tools and conservation analysis do not provide s trong support for or against an impact to the protein. In summary, the clinical significance of the p.Pro1604Arg variant is uncertain. ACMG/AMP Criteria applied : PM2.

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