ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.33C>G (p.Ser11Arg) (rs202010117)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081630 SCV000644066 likely benign Charcot-Marie-Tooth disease, type 4A 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000658365 SCV000780137 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing The S11R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S11R variant is observed in 134/34386 (0.4%) alleles from individuals of Latino background (Lek et al., 2016). The S11R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter 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.

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