ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.1258A>T (p.Thr420Ser)

gnomAD frequency: 0.00001  dbSNP: rs754153159
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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 RCV000706615 SCV000835678 uncertain significance Aicardi-Goutieres syndrome 5 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 420 of the SAMHD1 protein (p.Thr420Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs754153159, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with SAMHD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GenomeConnect - Invitae Patient Insights Network RCV000706615 SCV001749350 not provided Aicardi-Goutieres syndrome 5 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-25-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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