ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.6131C>T (p.Thr2044Met)

gnomAD frequency: 0.00003  dbSNP: rs199759434
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002596061 SCV003499837 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV002596061 SCV005620599 uncertain significance not provided 2024-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV005281335 SCV005943210 uncertain significance Inborn genetic diseases 2025-01-24 criteria provided, single submitter clinical testing The c.6131C>T (p.T2044M) alteration is located in exon 30 (coding exon 29) of the SPTBN2 gene. This alteration results from a C to T substitution at nucleotide position 6131, causing the threonine (T) at amino acid position 2044 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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