ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.3379C>A (p.Pro1127Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004630413 SCV005128333 uncertain significance Inborn genetic diseases 2024-04-09 criteria provided, single submitter clinical testing The c.3379C>A (p.P1127T) alteration is located in exon 18 (coding exon 17) of the HERC1 gene. This alteration results from a C to A substitution at nucleotide position 3379, causing the proline (P) at amino acid position 1127 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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