ClinVar Miner

Submissions for variant NM_001941.5(DSC3):c.2488G>A (p.Gly830Ser)

gnomAD frequency: 0.00112  dbSNP: rs142851621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000887106 SCV001030645 likely benign not provided 2018-05-16 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000887106 SCV001548828 uncertain significance not provided no assertion criteria provided clinical testing The DSC3 p.Gly830Ser variant was not identified in the literature nor was it identified in ClinVar or LOVD 3.0. The variant was identified in dbSNP (ID: rs142851621) and Cosmic (FATHMM prediction of pathogenic; score=0.74). The variant was also identified in control databases in 105 of 282074 chromosomes at a frequency of 0.000372 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 96 of 24946 chromosomes (freq: 0.003848), Other in 1 of 7214 chromosomes (freq: 0.000139), Latino in 3 of 35412 chromosomes (freq: 0.000085) and European (non-Finnish) in 5 of 128484 chromosomes (freq: 0.000039); it was not observed in the Ashkenazi Jewish, East Asian, European (Finnish) or South Asian populations. The p.Gly830 residue is not conserved in mammals and four out of five computational analyses (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 3 of 4 in silico or computational prediction software programs (SpliceSiteFinder, NNSPLICE, GeneSplicer) do not predict a difference in splicing; this is not very predictive of pathogenicity. 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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