ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.11110C>T (p.Arg3704Cys)

gnomAD frequency: 0.00001  dbSNP: rs780339168
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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 RCV002978188 SCV003692498 uncertain significance Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing The c.11110C>T (p.R3704C) alteration is located in exon 57 (coding exon 56) of the HERC1 gene. This alteration results from a C to T substitution at nucleotide position 11110, causing the arginine (R) at amino acid position 3704 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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