ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1612C>G (p.Leu538Val)

gnomAD frequency: 0.00085  dbSNP: rs147772724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945590 SCV001091625 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002548230 SCV003712671 uncertain significance Inborn genetic diseases 2022-12-14 criteria provided, single submitter clinical testing The c.1612C>G (p.L538V) alteration is located in exon 12 (coding exon 12) of the EVC gene. This alteration results from a C to G substitution at nucleotide position 1612, causing the leucine (L) at amino acid position 538 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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