ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1096G>A (p.Asp366Asn) (rs1229379546)

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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 RCV000825864 SCV000967349 uncertain significance not specified 2018-09-26 criteria provided, single submitter clinical testing The p.Asp366Asn variant in ALMS1 has not been previously reported in individuals with hearing loss or Alstrom syndrome and was absent from large population stud ies. Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive en ough to rule out pathogenicity. In summary, the clinical significance of this va riant is uncertain. ACMG/AMP Criteria applied: PM2, BP4.

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