ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.8200C>T (p.Arg2734Cys)

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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 RCV004630409 SCV005128327 uncertain significance Inborn genetic diseases 2024-05-28 criteria provided, single submitter clinical testing The c.8200C>T (p.R2734C) alteration is located in exon 40 (coding exon 39) of the HERC1 gene. This alteration results from a C to T substitution at nucleotide position 8200, causing the arginine (R) at amino acid position 2734 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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