ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3468G>A (p.Leu1156=)

gnomAD frequency: 0.00042  dbSNP: rs201460514
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756098 SCV000883815 likely benign not provided 2017-09-07 criteria provided, single submitter clinical testing The c.3468G>A; p.Leu1156Leuvariant (rs201460514) does not alter the amino acid sequence of the EVC protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with Ellis-van Creveld syndrome in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.06% (identified on 144 out of 256,150 chromosomes). Based on the available information, the c.3468G>A variant is likely to be benign.
Invitae RCV001083090 SCV001098313 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001146052 SCV001306765 uncertain significance Ellis-van Creveld syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000756098 SCV001801402 likely benign not provided 2020-07-02 criteria provided, single submitter clinical testing

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