ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3762del (p.Val1255fs)

gnomAD frequency: 0.00001  dbSNP: rs1577093258
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792528 SCV000931831 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2018-12-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the EVC2 protein. Other variant(s) that disrupt this region (p.Leu1266*, p.Gly1269*, p.Leu1265Tyrfs*2, also known as p.L1265fs1266) have been determined to be pathogenic (PMID: 16404586, 19810119, 23220543). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with EVC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the EVC2 gene (p.Val1255Tyrfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 54 amino acids of the EVC2 protein.

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