ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.11207C>A (p.Ser3736Ter) (rs367877017)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000277971 SCV000330393 pathogenic not provided 2016-04-05 criteria provided, single submitter clinical testing The S3736X pathogenic variant in the ALMS1 gene has been reported previously in association with autosomal recessive Alstrom syndrome when present in trans with another disease-causing variant (Marshall et al., 2007; Zmyslowska et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S3736X variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret S3736X as a pathogenic variant.
Counsyl RCV000672084 SCV000797148 pathogenic Alstrom syndrome 2018-01-15 no assertion criteria provided clinical testing

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