ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.773+5G>A

dbSNP: rs1131691580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493069 SCV000582417 likely pathogenic not provided 2015-09-22 criteria provided, single submitter clinical testing The c.773+5 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.773+5 G>A may destroy the natural splice donor site in intron 8 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. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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