ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2552T>C (p.Val851Ala)

gnomAD frequency: 0.00001  dbSNP: rs748110014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608605 SCV000722802 likely benign not specified 2017-09-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002456359 SCV002740152 uncertain significance Inborn genetic diseases 2018-01-18 criteria provided, single submitter clinical testing The p.V851A variant (also known as c.2552T>C), located in coding exon 17 of the SPTAN1 gene, results from a T to C substitution at nucleotide position 2552. The valine at codon 851 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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