ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu) (rs6546839)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664569 SCV000788556 uncertain significance Alstrom syndrome 2017-01-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825283 SCV000966575 uncertain significance not specified 2018-08-08 criteria provided, single submitter clinical testing The p.Arg2286Leu variant in ALMS1 has not been previously reported in individual s with Alstrom syndrome, but has been identified in 0.007% (1/15254) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinsti Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predict ive enough to rule out pathogenicity. In summary, the clinical significance of t his variant is uncertain. ACMG/AMP criteria applied: PM2, BP4.

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