ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.518G>A (p.Arg173Gln)

gnomAD frequency: 0.00004  dbSNP: rs745699870
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205257 SCV001376499 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561177 SCV003715715 uncertain significance Inborn genetic diseases 2022-01-04 criteria provided, single submitter clinical testing The c.518G>A (p.R173Q) alteration is located in exon 8 (coding exon 6) of the CC2D2A gene. This alteration results from a G to A substitution at nucleotide position 518, causing the arginine (R) at amino acid position 173 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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