ClinVar Miner

Submissions for variant NM_003200.5(TCF3):c.1948C>A (p.Pro650Thr)

gnomAD frequency: 0.00013  dbSNP: rs7252811
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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 RCV000880448 SCV001023544 likely benign not provided 2023-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501377 SCV002806337 likely benign Agammaglobulinemia 8, autosomal dominant; Agammaglobulinemia 8b, autosomal recessive 2021-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539292 SCV003698342 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.1948C>A (p.P650T) alteration is located in exon 19 (coding exon 18) of the TCF3 gene. This alteration results from a C to A substitution at nucleotide position 1948, causing the proline (P) at amino acid position 650 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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