ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.191T>C (p.Leu64Pro)

dbSNP: rs121434264
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851616 SCV002288762 likely pathogenic Parathyroid carcinoma 2021-04-04 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this variant affects CDC73 protein function (PMID: 15580289, 15632063). This variant has been observed in individual(s) with clinical features of CDC73-related conditions (PMID: 12434154, 14985403, 19017757). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3272). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 64 of the CDC73 protein (p.Leu64Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
OMIM RCV000003431 SCV000023589 pathogenic Hyperparathyroidism 1 2002-12-01 no assertion criteria provided literature only

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