ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.2594A>T (p.His865Leu)

gnomAD frequency: 0.00001  dbSNP: rs776434697
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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 RCV002848549 SCV003614192 uncertain significance Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing The c.2594A>T (p.H865L) alteration is located in exon 13 (coding exon 12) of the HERC1 gene. This alteration results from a A to T substitution at nucleotide position 2594, causing the histidine (H) at amino acid position 865 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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