ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.308C>T (p.Pro103Leu) (rs199543866)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726717 SCV000702395 uncertain significance not provided 2016-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000726717 SCV000619608 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing The P103L variant in the RECQL4 gene has been reported previously in the heterozygous state in an individual with a diagnosis of Rothmund-Thomson syndrome, but no second variant in RECQL4 was identified in this individual (Wang et al., 2003). The P103L variant is observed in 137/125,440 (0.1%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). The P103L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret P103L as a variant of uncertain significance.
Invitae RCV000230315 SCV000288254 likely benign Baller-Gerold syndrome 2018-01-10 criteria provided, single submitter clinical testing

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