ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2668G>A (p.Val890Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002831779 SCV003622529 uncertain significance Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing The c.2668G>A (p.V890M) alteration is located in exon 14 (coding exon 13) of the SPTBN2 gene. This alteration results from a G to A substitution at nucleotide position 2668, causing the valine (V) at amino acid position 890 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004695483 SCV005190383 uncertain significance not provided criteria provided, single submitter not provided

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