ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile)

gnomAD frequency: 0.00002  dbSNP: rs771435248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658467 SCV000780239 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 RCV001080173 SCV001096628 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004972838 SCV005585148 uncertain significance Inborn genetic diseases 2024-07-22 criteria provided, single submitter clinical testing The c.3859G>A (p.V1287I) alteration is located in exon 22 (coding exon 22) of the EVC2 gene. This alteration results from a G to A substitution at nucleotide position 3859, causing the valine (V) at amino acid position 1287 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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