ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.206C>T (p.Pro69Leu) (rs147750747)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725884 SCV000241767 uncertain significance not provided 2018-01-03 criteria provided, single submitter clinical testing The P69L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P69L variant is observed in 61/18,862 (0.3%) alleles from individuals of East Asian background, including a homozygous individual (Lek et al., 2016). The P69L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000725884 SCV000291531 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725884 SCV000340248 uncertain significance not provided 2016-03-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378530 SCV000447476 uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720840 SCV000851724 uncertain significance Seizures 2017-05-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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