ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.6775del (p.Thr2259fs) (rs1553404310)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523272 SCV000620074 likely pathogenic not provided 2017-08-15 criteria provided, single submitter clinical testing Although the c.6775delA likely pathogenic variant in the ALMS1 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon threonine 2259, changing it to a leucine, and creating a premature stop codon at position 9 of the new reading frame, denoted p.Thr2259LeufsX9. This likely pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other loss of function variants in the ALMS1 gene have been reported in Human Gene Mutation Database in association with Alstrom syndrome (Stenson et al., 2014). Furthermore, the c.6775delA variant has not been observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Counsyl RCV000984143 SCV001132119 likely pathogenic Alstrom syndrome 2018-03-13 no assertion criteria provided clinical testing

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