ClinVar Miner

Submissions for variant NM_004667.6(HERC2):c.293T>C (p.Leu98Pro)

gnomAD frequency: 0.00017  dbSNP: rs142254143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002569103 SCV003742245 uncertain significance Inborn genetic diseases 2024-05-26 criteria provided, single submitter clinical testing The c.293T>C (p.L98P) alteration is located in exon 4 (coding exon 3) of the HERC2 gene. This alteration results from a T to C substitution at nucleotide position 293, causing the leucine (L) at amino acid position 98 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579538 SCV001807611 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579538 SCV001971895 uncertain significance not provided no assertion criteria provided clinical testing

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