ClinVar Miner

Submissions for variant NM_001386135.1(AFF3):c.1108C>T (p.Leu370Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003147967 SCV003835475 uncertain significance KINSSHIP syndrome 2022-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246150 SCV004867633 uncertain significance Inborn genetic diseases 2023-11-06 criteria provided, single submitter clinical testing The c.1183C>T (p.L395F) alteration is located in exon 11 (coding exon 10) of the AFF3 gene. This alteration results from a C to T substitution at nucleotide position 1183, causing the leucine (L) at amino acid position 395 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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