ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.13357A>G (p.Thr4453Ala)

gnomAD frequency: 0.00001  dbSNP: rs763224069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002829006 SCV003213441 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with HERC1-related conditions. This variant is present in population databases (rs763224069, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 4453 of the HERC1 protein (p.Thr4453Ala).
Ambry Genetics RCV002829005 SCV003639769 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.13357A>G (p.T4453A) alteration is located in exon 72 (coding exon 71) of the HERC1 gene. This alteration results from a A to G substitution at nucleotide position 13357, causing the threonine (T) at amino acid position 4453 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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