ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8902C>T (p.Leu2968Phe)

dbSNP: rs768978881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001357115 SCV005408451 uncertain significance not provided 2023-09-22 criteria provided, single submitter clinical testing PM2_moderate
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357115 SCV001552470 uncertain significance not provided no assertion criteria provided clinical testing The SACS p.Leu2821Phe variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, Cosmic, MutDB, and LOVD 3.0 databases. The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Leu2821Phe variant occurs outside of the splicing consensus sequence and is predicted to have no significant impact on splicing by all prediction programs (SpliceSiteFinder-Like, MaxEntScan, NNSplice, GeneSplicer). The p.Leu2821 residue is conserved across mammals and other organisms. Computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein, with PolyPhen, SIFT and MutationTaster predicting an impact to the protein. This information is not very predictive of pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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