Submissions for variant NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT

dbSNP: rs750398145

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002036590	SCV002317611	uncertain significance	Familial aplasia of the vermis; Meckel-Gruber syndrome	2022-10-13	criteria provided, single submitter	clinical testing	This sequence change falls in intron 5 of the CC2D2A gene. It does not directly change the encoded amino acid sequence of the CC2D2A protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individual(s) with Joubert syndrome (PMID: 28497568). ClinVar contains an entry for this variant (Variation ID: 1525316). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics	RCV002486794	SCV002788232	uncertain significance	Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93	2022-04-27	criteria provided, single submitter	clinical testing