ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.9473G>T (p.Gly3158Val)

dbSNP: rs2551227239
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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 RCV004404192 SCV004881329 uncertain significance Inborn genetic diseases 2023-10-25 criteria provided, single submitter clinical testing The c.9473G>T (p.G3158V) alteration is located in exon 48 (coding exon 47) of the HERC1 gene. This alteration results from a G to T substitution at nucleotide position 9473, causing the glycine (G) at amino acid position 3158 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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