ClinVar Miner

Submissions for variant NM_020971.3(SPTBN4):c.737G>C (p.Arg246Pro)

dbSNP: rs370960966
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin RCV001268968 SCV001448204 likely pathogenic Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 2020-07-01 criteria provided, single submitter clinical testing The pathogenic homozygous missense variant identified led the exchange of an evolutionary conserved proline for an arginine. This variant was absent in the gnomAD database and in ClinVar. According to the Standards and Guidelines for the Interpretation of Sequence Variants developed by the American College of Medical Genetics and Genomics the evidence of pathogenicity of the c.737G>C, p.(Arg246Pro) variant is moderate .

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