ClinVar Miner

Submissions for variant NM_032193.3(RNASEH2C):c.115G>T (p.Asp39Tyr) (rs773527127)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537436 SCV000638651 uncertain significance Aicardi Goutieres syndrome 3 2019-06-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 39 of the RNASEH2C protein (p.Asp39Tyr). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is present in population databases (rs773527127, ExAC 0.009%). This variant has been reported in an individual affected with Aicardi Gouti res syndrome (PMID: 20131292). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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