ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.11359A>T (p.Ile3787Leu)

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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 RCV004985715 SCV005603032 uncertain significance Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing The c.11359A>T (p.I3787L) alteration is located in exon 59 (coding exon 58) of the HERC1 gene. This alteration results from a A to T substitution at nucleotide position 11359, causing the isoleucine (I) at amino acid position 3787 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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