ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.233A>G (p.Asp78Gly)

gnomAD frequency: 0.00001  dbSNP: rs750728317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292895 SCV001481587 uncertain significance Mosaic variegated aneuploidy syndrome 2 2020-01-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002538417 SCV003751078 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.233A>G (p.D78G) alteration is located in exon 3 (coding exon 3) of the CEP57 gene. This alteration results from a A to G substitution at nucleotide position 233, causing the aspartic acid (D) at amino acid position 78 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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