ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.3662A>T (p.Tyr1221Phe)

dbSNP: rs780900182
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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 RCV002840572 SCV003610053 uncertain significance Inborn genetic diseases 2022-04-12 criteria provided, single submitter clinical testing The c.3662A>T (p.Y1221F) alteration is located in exon 19 (coding exon 18) of the HERC1 gene. This alteration results from a A to T substitution at nucleotide position 3662, causing the tyrosine (Y) at amino acid position 1221 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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