ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.5120T>A (p.Leu1707Gln) (rs202110076)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492829 SCV000582096 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing The L1707Q variant in the PRKDC gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L1707Q variant was observed in 179/28306 (0.63%) alleles from individuals of Non-Finnish European background, including one homozygous individual, in the ExAC dataset (Lek et al., 2016). However, the variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000492829 SCV000655386 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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