ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1563G>A (p.Lys521=)

dbSNP: rs863224169
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198298 SCV000252117 uncertain significance not provided 2015-02-05 criteria provided, single submitter clinical testing The c.1563 G>A nucleotide substitution in the PNPT1 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Several in-silico splice prediction models predict that c.1563 G>A creates a cryptic donor site which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.The variant is found in MITONUC-MITOP panel(s).
Invitae RCV000198298 SCV002470257 likely benign not provided 2022-10-12 criteria provided, single submitter clinical testing

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