ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu) (rs115440602)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087713 SCV000645829 likely benign Legius syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000680880 SCV000808329 uncertain significance not provided 2018-02-21 criteria provided, single submitter clinical testing The P315L variant has not been observed in any individuals with suspected Legius syndrome, but is present in 30/24030 (0.12%) alleles from individuals of African background, in the ExAC dataset ((Brems et al., 2012, Lek et al., 2016). The P315L 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. We consider it to be a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV001087713 SCV001274829 uncertain significance Legius syndrome 2017-10-13 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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