ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3229G>A (p.Ala1077Thr)

dbSNP: rs182888222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001150377 SCV001311439 uncertain significance Ellis-van Creveld syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences RCV003953534 SCV004771178 uncertain significance EVC2-related condition 2024-02-22 criteria provided, single submitter clinical testing The EVC2 c.3229G>A variant is predicted to result in the amino acid substitution p.Ala1077Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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