ClinVar Miner

Submissions for variant NM_016642.4(SPTBN5):c.689G>A (p.Arg230His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004127850 SCV003604332 uncertain significance not specified 2022-05-18 criteria provided, single submitter clinical testing The c.584G>A (p.R195H) alteration is located in exon 6 (coding exon 5) of the SPTBN5 gene. This alteration results from a G to A substitution at nucleotide position 584, causing the arginine (R) at amino acid position 195 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003404163 SCV004136413 benign not provided 2022-07-01 criteria provided, single submitter clinical testing SPTBN5: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003963742 SCV004784918 likely benign SPTBN5-related disorder 2023-03-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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