ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.6979A>G (p.Ser2327Gly) (rs560736902)

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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 RCV000825869 SCV000967354 uncertain significance not specified 2019-02-05 criteria provided, single submitter clinical testing The p.Ser2327Gly variant in ALMS1 has not been previously reported in individuals with hearing loss or Alstrom syndrome, but has been identified in 0.01% (3/17950) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, BP4.

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