ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.3953C>G (p.Thr1318Arg)

gnomAD frequency: 0.00001  dbSNP: rs753441944
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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 RCV003080983 SCV003485259 uncertain significance not provided 2022-05-19 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 (rs753441944, gnomAD 0.001%). This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 1318 of the HERC1 protein (p.Thr1318Arg).
3billion RCV004725529 SCV005328978 likely benign Macrocephaly, dysmorphic facies, and psychomotor retardation 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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