ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.352T>G (p.Leu118Val)

gnomAD frequency: 0.00001  dbSNP: rs1472386495
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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 RCV000795263 SCV000934712 uncertain significance Multiple endocrine neoplasia type 4 2021-08-18 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CDKN1B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 118 of the CDKN1B protein (p.Leu118Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine.
Ambry Genetics RCV002458426 SCV002614997 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-10 criteria provided, single submitter clinical testing The p.L118V variant (also known as c.352T>G), located in coding exon 1 of the CDKN1B gene, results from a T to G substitution at nucleotide position 352. The leucine at codon 118 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000795263 SCV004212420 uncertain significance Multiple endocrine neoplasia type 4 2023-05-15 criteria provided, single submitter clinical testing

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