ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6071A>C (p.Lys2024Thr) (rs369339997)

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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 RCV000604357 SCV000713795 uncertain significance not specified 2018-01-09 criteria provided, single submitter clinical testing The p.Lys2025Thr variant in ALMS1 has not been previously reported in individual s with hearing loss, but has been identified in 3/30778 South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; db SNP rs369339997). Computational prediction tools and conservation analyses do no t provide strong support for or against an impact to the protein. In summary, th e clinical significance of the p.Lys2023Thr variant is uncertain. ACMG/AMP Crite ria applied: none.

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