ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5726del (p.Glu1909fs) (rs1572936972)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853355 SCV000996222 likely pathogenic Alstrom syndrome 2018-12-04 criteria provided, single submitter clinical testing This frameshifting variant in exon 8 of 23 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0004% (1/245618) and thus is presumed to be rare. Based on the available evidence, the c.5729del (p.Pro1910GlnfsTer8) variant is classified as likely pathogenic.

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