ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1432+2_1432+15del (rs1203193062)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521965 SCV000621178 likely pathogenic not provided 2017-09-29 criteria provided, single submitter clinical testing A variant that is likely pathogenic was identified in the ALMS1 gene. The c.1435+2_1435+15del14 variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). In silico splice prediction algorithms suggest that the c.1435+2_1435+15del14 variant may result in the loss of the natural splice donor site, which could lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.
Counsyl RCV000672935 SCV000798091 likely pathogenic Alstrom syndrome 2018-02-22 criteria provided, single submitter clinical testing

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