ClinVar Miner

Submissions for variant NM_016379.4(VCX3A):c.388G>C (p.Val130Leu)

gnomAD frequency: 0.00271  dbSNP: rs780354662
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004601534 SCV003756293 uncertain significance not specified 2024-03-26 criteria provided, single submitter clinical testing The c.388G>C (p.V130L) alteration is located in exon 3 (coding exon 2) of the VCX3A gene. This alteration results from a G to C substitution at nucleotide position 388, causing the valine (V) at amino acid position 130 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001795739 SCV005207932 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795739 SCV002035416 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795739 SCV002038415 likely benign not provided no assertion criteria provided clinical testing

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