ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.884C>G (p.Thr295Ser)

gnomAD frequency: 0.00001  dbSNP: rs754532508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673355 SCV000798545 uncertain significance Ellis-van Creveld syndrome 2018-03-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493115 SCV002784743 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002493115 SCV003520034 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-03-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 295 of the EVC protein (p.Thr295Ser). This variant is present in population databases (rs754532508, gnomAD 0.08%). This missense change has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 28253570). ClinVar contains an entry for this variant (Variation ID: 557239). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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