ClinVar Miner

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

gnomAD frequency: 0.00029  dbSNP: rs115440602
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087713 SCV000645829 likely benign Legius syndrome 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000680880 SCV000808329 uncertain significance not provided 2021-04-19 criteria provided, single submitter clinical testing Identified in a patient and sibling with cafe-au-lait macules and freckling; however, a large deletion of the NF1 gene was also identified (Pacot et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22753041, 31443423)
Illumina Laboratory Services, 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.
Ambry Genetics RCV002526159 SCV003725801 uncertain significance Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing The c.944C>T (p.P315L) alteration is located in exon 7 (coding exon 7) of the SPRED1 gene. This alteration results from a C to T substitution at nucleotide position 944, causing the proline (P) at amino acid position 315 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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