ClinVar Miner

Submissions for variant NM_032193.3(RNASEH2C):c.434G>C (p.Arg145Pro) (rs774773395)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185575 SCV000238475 uncertain significance Aicardi Goutieres syndrome 3 2015-05-26 no assertion criteria provided research This variant (c.434G>C) is considered a variant of uncertain significance, as it is a novel variant that has not been reported in literature and absent in large population databases. Computational evidence is conflicting. It occurs in a moderately conserved amino acid position. Mammals have either an arginine or histidine at this position. This amino acid substiution is from an arginine to a proline, which is a non-conservative change. It is in the Ribonuclease H2 subunit C domain according to InterPro. The nucleotide position is not conserved.

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