ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.694C>A (p.Pro232Thr) (rs374856119)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000932090 SCV001077769 likely benign not provided 2018-11-13 criteria provided, single submitter clinical testing
Invitae RCV001459175 SCV001663012 likely benign Hereditary sensory neuropathy type IE 2018-11-13 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000932090 SCV001554194 uncertain significance not provided no assertion criteria provided clinical testing The DNMT1 p.Pro216Thr 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: rs374856119) and in control databases in 2 of 251436 chromosomes at a frequency of 0.000008 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the European (non-Finnish) population in 2 of 113724 chromosomes (freq: 0.000018); it was not observed in the African, Latino, Ashkenazi Jewish, East Asian, European (Finnish), Other or South Asian populations. The p.Pro216 residue is not conserved in mammals and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, 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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