ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg)

gnomAD frequency: 0.00004  dbSNP: rs760839591
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174275 SCV000225552 uncertain significance not provided 2014-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001423715 SCV001626297 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000174275 SCV002072736 likely benign not provided 2021-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516624 SCV003688655 uncertain significance Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing The c.1116C>A (p.S372R) alteration is located in exon 12 (coding exon 10) of the CC2D2A gene. This alteration results from a C to A substitution at nucleotide position 1116, causing the serine (S) at amino acid position 372 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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