ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.2137_2138CT[2] (p.Ser714fs) (rs387906313)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599323 SCV000710744 pathogenic not provided 2018-02-23 criteria provided, single submitter clinical testing The c.2141_2142delCT variant has been published in one individual with Alstrom syndrome, who harbored a second pathogenic allele in trans (Hearn et al., 2002). This variant causes a shift in reading frame starting at codon serine 714, changing it to a tyrosine, and creating a premature stop codon at position 6 of the new reading frame, denoted p.Ser714TyrfsX6. 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 frameshift variants in the ALSM1 gene have been reported in Human Gene Mutation Database in association with Alstrom syndrome, a gene for which loss-of-function is a known mechanism of disease (Stenson et al., 2014). Furthermore, the c.2141_2142delCT variant has not been observed at a significant frequency in large population cohorts (Lek et al., 2016).
OMIM RCV000004178 SCV000024344 pathogenic Alstrom syndrome 2002-05-01 no assertion criteria provided literature only

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