ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11638_11639del (p.Val3880fs)

dbSNP: rs2104189157
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376523 SCV001573701 likely pathogenic Alstrom syndrome 2021-04-08 criteria provided, single submitter research The ALMS1 c.11641_11642del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PVS1. Based on this evidence we have classified this variant as likely Pathogenic.

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