ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.2054T>C (p.Leu685Pro)

dbSNP: rs746641607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519160 SCV000620756 uncertain significance not provided 2017-09-13 criteria provided, single submitter clinical testing The L685P variant has been previously reported as a polymorphism with a frequency of 2.4% (Tezak et al., 2003). However, the L685P variant is not observed in large population cohorts (Lek et al., 2016). This 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 conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985077 SCV001133035 likely pathogenic Merosin deficient congenital muscular dystrophy 2019-09-26 no assertion criteria provided clinical testing

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