ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.6946C>G (p.Leu2316Val)

dbSNP: rs2530787655
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002849412 SCV003619710 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.6946C>G (p.L2316V) alteration is located in exon 6 (coding exon 6) of the FAT4 gene. This alteration results from a C to G substitution at nucleotide position 6946, causing the leucine (L) at amino acid position 2316 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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