ClinVar Miner

Submissions for variant NM_031892.3(SH3KBP1):c.1699T>A (p.Ser567Thr)

gnomAD frequency: 0.00044  dbSNP: rs61744606
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002194375 SCV002489621 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047137 SCV003880050 uncertain significance not specified 2023-03-02 criteria provided, single submitter clinical testing The c.1699T>A (p.S567T) alteration is located in exon 16 (coding exon 16) of the SH3KBP1 gene. This alteration results from a T to A substitution at nucleotide position 1699, causing the serine (S) at amino acid position 567 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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