ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2267A>C (p.Asn756Thr)

gnomAD frequency: 0.00006  dbSNP: rs146837459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002024032 SCV002310354 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-11-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 756 of the EVC2 protein (p.Asn756Thr). This variant is present in population databases (rs146837459, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. 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 threonine 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.
Ambry Genetics RCV004046930 SCV004865416 uncertain significance Inborn genetic diseases 2022-07-26 criteria provided, single submitter clinical testing The c.2267A>C (p.N756T) alteration is located in exon 14 (coding exon 14) of the EVC2 gene. This alteration results from a A to C substitution at nucleotide position 2267, causing the asparagine (N) at amino acid position 756 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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