ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.918G>A (p.Leu306=) (rs142115849)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705107 SCV000834089 uncertain significance Dilated cardiomyopathy 1O 2018-05-14 criteria provided, single submitter clinical testing This sequence change affects codon 306 of the ABCC9 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ABCC9 protein. This variant is present in population databases (rs142115849, ExAC 0.02%). This variant has not been reported in the literature in individuals with ABCC9-related disease. ClinVar contains an entry for this variant (Variation ID: 45423). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038627 SCV000062305 likely benign not specified 2012-04-10 criteria provided, single submitter clinical testing Leu306Leu in exon 6 of ABCC9: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 3/3738 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS/; dbSNP rs142115849). Leu306Leu in exon 6 of A BCC9 (rs142115849; allele frequency = 3/3738) **

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