ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4601T>C (p.Leu1534Ser)

dbSNP: rs2148495981
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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 RCV001949037 SCV002209526 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-04-16 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1534 of the CC2D2A protein (p.Leu1534Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. 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 expected to disrupt CC2D2A 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.
Ambry Genetics RCV003167419 SCV003882776 uncertain significance Inborn genetic diseases 2023-01-11 criteria provided, single submitter clinical testing The c.4601T>C (p.L1534S) alteration is located in exon 37 (coding exon 35) of the CC2D2A gene. This alteration results from a T to C substitution at nucleotide position 4601, causing the leucine (L) at amino acid position 1534 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005031948 SCV005664616 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-06-14 criteria provided, single submitter clinical testing

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