ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.1424C>T (p.Thr475Ile)

dbSNP: rs2142041872
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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 RCV002844841 SCV003606738 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.1424C>T (p.T475I) alteration is located in exon 5 (coding exon 4) of the HERC1 gene. This alteration results from a C to T substitution at nucleotide position 1424, causing the threonine (T) at amino acid position 475 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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