ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2350A>G (p.Met784Val)

gnomAD frequency: 0.00002  dbSNP: rs202191109
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658466 SCV000780238 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001082525 SCV001096629 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534289 SCV003733159 uncertain significance Inborn genetic diseases 2022-08-11 criteria provided, single submitter clinical testing The c.2350A>G (p.M784V) alteration is located in exon 14 (coding exon 14) of the EVC2 gene. This alteration results from a A to G substitution at nucleotide position 2350, causing the methionine (M) at amino acid position 784 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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