ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.314C>T (p.Ser105Leu)

dbSNP: rs1675773790
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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 RCV001348704 SCV001543014 uncertain significance Parathyroid carcinoma 2023-08-28 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CDC73 protein function. ClinVar contains an entry for this variant (Variation ID: 1044459). This variant has not been reported in the literature in individuals affected with CDC73-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 105 of the CDC73 protein (p.Ser105Leu).
Ambry Genetics RCV002322296 SCV002608599 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-12 criteria provided, single submitter clinical testing The p.S105L variant (also known as c.314C>T), located in coding exon 4 of the CDC73 gene, results from a C to T substitution at nucleotide position 314. The serine at codon 105 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002493794 SCV002779378 uncertain significance Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 2022-04-29 criteria provided, single submitter clinical testing

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