Submissions for variant NM_001759.4(CCND2):c.455C>A (p.Ala152Glu)

gnomAD frequency: 0.00007  dbSNP: rs199719393

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000994779	SCV001148545	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	CCND2: BS1
Labcorp Genetics (formerly Invitae), Labcorp	RCV000994779	SCV002112953	uncertain significance	not provided	2025-01-07	criteria provided, single submitter	clinical testing	This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 152 of the CCND2 protein (p.Ala152Glu). This variant is present in population databases (rs199719393, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CCND2-related conditions. ClinVar contains an entry for this variant (Variation ID: 806775). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CCND2 protein function with a negative predictive value of 80%. 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000994779	SCV001741549	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000994779	SCV001969740	uncertain significance	not provided		no assertion criteria provided	clinical testing