ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.4478C>T (p.Thr1493Ile)

dbSNP: rs1313252908
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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 RCV004404177 SCV004881306 uncertain significance Inborn genetic diseases 2023-11-06 criteria provided, single submitter clinical testing The c.4478C>T (p.T1493I) alteration is located in exon 24 (coding exon 23) of the HERC1 gene. This alteration results from a C to T substitution at nucleotide position 4478, causing the threonine (T) at amino acid position 1493 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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