ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2653G>A (p.Asp885Asn)

gnomAD frequency: 0.00001  dbSNP: rs1241844907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699256 SCV005205522 uncertain significance not specified 2024-06-24 criteria provided, single submitter clinical testing Variant summary: EVC c.2653G>A (p.Asp885Asn) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251260 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2653G>A in individuals affected with Ellis-van Creveld syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 990328). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001278323 SCV001465323 uncertain significance Ellis-van Creveld syndrome 2020-08-13 no assertion criteria provided clinical testing

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