ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2225C>T (p.Ser742Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002685225 SCV003725621 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.2225C>T (p.S742L) alteration is located in exon 14 (coding exon 14) of the EVC2 gene. This alteration results from a C to T substitution at nucleotide position 2225, causing the serine (S) at amino acid position 742 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005215964 SCV005854640 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 742 of the EVC2 protein (p.Ser742Leu). This variant is present in population databases (rs764719201, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2385467). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The leucine 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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