ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.854+3A>G (rs1057524566)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427149 SCV000535920 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing The c.854+3 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.854+3 A>G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.854+3 A>G nucleotide substitution occurs at a position that is not conserved. Several in-silico splice prediction models predict that c.854+3 A>G destroys the splice donor for intron 4 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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