ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.730C>T (p.Arg244Cys)

dbSNP: rs2551856987
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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 RCV002723064 SCV003559706 uncertain significance Inborn genetic diseases 2021-07-08 criteria provided, single submitter clinical testing The c.730C>T (p.R244C) alteration is located in exon 2 (coding exon 1) of the HERC1 gene. This alteration results from a C to T substitution at nucleotide position 730, causing the arginine (R) at amino acid position 244 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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