ClinVar Miner

Submissions for variant NM_004667.6(HERC2):c.3757G>A (p.Ala1253Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002891608 SCV003636155 uncertain significance Inborn genetic diseases 2022-08-01 criteria provided, single submitter clinical testing The c.3757G>A (p.A1253T) alteration is located in exon 25 (coding exon 24) of the HERC2 gene. This alteration results from a G to A substitution at nucleotide position 3757, causing the alanine (A) at amino acid position 1253 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003135250 SCV003810742 uncertain significance not provided 2019-08-23 criteria provided, single submitter clinical testing

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