ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1434+3A>T (rs1553123967)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568717 SCV000662615 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-25 criteria provided, single submitter clinical testing The c.1518+3A>T intronic variant results from an A to T substitution 3 nucleotides after coding exon 15 in the MUTYH gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 140000 alleles tested) in our clinical cohort.This nucleotide position is poorly conserved in available vertebrate species. The BDGPsplicing model does not predict any significant impact while theESEfinder in silicotoolpredicts a weakening in the native splice donor site efficiency.Since supporting evidence is limited at this time, the clinical significance of this alterationremains unclear.
Mendelics RCV000708792 SCV000837743 uncertain significance MYH-associated polyposis 2018-07-02 criteria provided, single submitter clinical testing

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