ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1155-3A>G

dbSNP: rs1060500014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464787 SCV000541287 likely pathogenic Parathyroid carcinoma 2023-10-22 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the CDC73 gene. It does not directly change the encoded amino acid sequence of the CDC73 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of hyperparathyroidism-jaw tumor syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 403885). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneDx RCV001805057 SCV002050339 uncertain significance not provided 2021-12-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports a deleterious effect on splicing
Ambry Genetics RCV002365584 SCV002625409 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-20 criteria provided, single submitter clinical testing The c.1155-3A>G intronic variant results from an A to G substitution 3 nucleotides upstream from coding exon 14 in the CDC73 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor/donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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