ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.10739G>A (p.Arg3580Gln)

gnomAD frequency: 0.00001  dbSNP: rs747862975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333175 SCV001525689 uncertain significance Macrocephaly, dysmorphic facies, and psychomotor retardation 2018-11-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546614 SCV003487334 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3580 of the HERC1 protein (p.Arg3580Gln). This variant is present in population databases (rs747862975, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with HERC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1031369). 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. 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.
GeneDx RCV002546614 SCV005080178 uncertain significance not provided 2023-12-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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