ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.2157G>A (p.Lys719=)

dbSNP: rs2101174469
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001877729 SCV002139107 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2021-10-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with AMPD2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 773 of the AMPD2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AMPD2 protein. This variant also falls at the last nucleotide of exon 17, which is part of the consensus splice site for this exon.

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