ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4366G>A (p.Val1456Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003220113 SCV003908867 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.4366G>A (p.V1456I) alteration is located in exon 35 (coding exon 33) of the CC2D2A gene. This alteration results from a G to A substitution at nucleotide position 4366, causing the valine (V) at amino acid position 1456 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036699 SCV005664596 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-02-22 criteria provided, single submitter clinical testing

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