ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.446G>A (p.Arg149His)

gnomAD frequency: 0.00002  dbSNP: rs769145958
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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 RCV002626751 SCV002964908 uncertain significance not provided 2022-09-07 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with HERC1-related conditions. This variant is present in population databases (rs769145958, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 149 of the HERC1 protein (p.Arg149His).
Ambry Genetics RCV004632032 SCV005128325 uncertain significance Inborn genetic diseases 2024-06-04 criteria provided, single submitter clinical testing The c.446G>A (p.R149H) alteration is located in exon 2 (coding exon 1) of the HERC1 gene. This alteration results from a G to A substitution at nucleotide position 446, causing the arginine (R) at amino acid position 149 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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