ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.339C>G (p.Ser113Arg)

dbSNP: rs147369153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520142 SCV000621870 uncertain significance not provided 2017-11-03 criteria provided, single submitter clinical testing The S113R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S113R variant is not observed in large population cohorts (Lek et al., 2016). The S113R 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. The majority of in silico analyses predict this variant likely does not alter the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000638578 SCV000760108 uncertain significance Danon disease 2021-08-31 criteria provided, single submitter clinical testing

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