ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.259C>G (p.Leu87Val)

dbSNP: rs777220853
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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 RCV002656629 SCV003540553 uncertain significance Inborn genetic diseases 2022-07-26 criteria provided, single submitter clinical testing The c.259C>G (p.L87V) alteration is located in exon 2 (coding exon 1) of the HERC1 gene. This alteration results from a C to G substitution at nucleotide position 259, causing the leucine (L) at amino acid position 87 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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