ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3643A>G (p.Ser1215Gly)

gnomAD frequency: 0.00004  dbSNP: rs765661601
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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) RCV000594362 SCV000709307 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001312485 SCV001502941 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-06-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024856 SCV004918754 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.3643A>G (p.S1215G) alteration is located in exon 30 (coding exon 28) of the CC2D2A gene. This alteration results from a A to G substitution at nucleotide position 3643, causing the serine (S) at amino acid position 1215 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005034179 SCV005664556 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-04-09 criteria provided, single submitter clinical testing

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