ClinVar Miner

Submissions for variant NM_012120.3(CD2AP):c.1229C>T (p.Pro410Leu)

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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 RCV002585025 SCV003489222 uncertain significance not provided 2022-10-07 criteria provided, single submitter clinical testing 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 CD2AP protein function. 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. This variant has not been reported in the literature in individuals affected with CD2AP-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 410 of the CD2AP protein (p.Pro410Leu).
Ambry Genetics RCV005310912 SCV005980361 uncertain significance Inborn genetic diseases 2025-02-09 criteria provided, single submitter clinical testing The c.1229C>T (p.P410L) alteration is located in exon 12 (coding exon 12) of the CD2AP gene. This alteration results from a C to T substitution at nucleotide position 1229, causing the proline (P) at amino acid position 410 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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