ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.655-1G>C (rs1554787526)

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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 RCV000619564 SCV000738608 likely pathogenic Cardiovascular phenotype 2016-04-26 criteria provided, single submitter clinical testing The c.655-1G>C intronic variant results from a G to C substitution one nucleotide upstream from coding exon 5 of the COL5A1 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. This nucleotide position is highly conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to abolish the native splice acceptor site, but is predicted to weaken (but not abolish) the efficiency of the native splice acceptor site by ESEfinder; however, direct evidence is unavailable.Alterations that disrupt the canonical splice acceptor site are typically deleterious in nature (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007.Genet Med.2008;10:294). As such, the c.655-1G>Cvariant is classified as likely pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001508648 SCV001714931 likely pathogenic not provided 2021-02-11 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Supporting, PM5

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