ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.4691A>G (p.His1564Arg)

gnomAD frequency: 0.00002  dbSNP: rs562272047
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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 RCV002668729 SCV003535916 uncertain significance Inborn genetic diseases 2021-04-20 criteria provided, single submitter clinical testing The c.4691A>G (p.H1564R) alteration is located in exon 26 (coding exon 25) of the HERC1 gene. This alteration results from a A to G substitution at nucleotide position 4691, causing the histidine (H) at amino acid position 1564 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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