ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn) (rs78570354)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000939719 SCV001085569 likely benign not provided 2018-10-23 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000939719 SCV001550376 uncertain significance not provided no assertion criteria provided clinical testing The CCDC88C p.Asp1459Asn variant was not identified in the literature nor was it identified in ClinVar, Cosmic or LOVD 3.0. The variant was identified in dbSNP (ID: rs78570354) and in control databases in 99 of 278450 chromosomes at a frequency of 0.000356 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: East Asian in 95 of 19516 chromosomes (freq: 0.004868), African in 3 of 24164 chromosomes (freq: 0.000124) and European (non-Finnish) in 1 of 126370 chromosomes (freq: 0.000008), but not in the Latino, Ashkenazi Jewish, European (Finnish), Other, and South Asian populations. The p.Asp1459 residue is not conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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