ClinVar Miner

Submissions for variant NM_004263.5(SEMA4F):c.947G>A (p.Arg316Gln)

gnomAD frequency: 0.00003  dbSNP: rs776046741
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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 RCV004164507 SCV003653040 uncertain significance not specified 2022-10-27 criteria provided, single submitter clinical testing The c.947G>A (p.R316Q) alteration is located in exon 8 (coding exon 8) of the SEMA4F gene. This alteration results from a G to A substitution at nucleotide position 947, causing the arginine (R) at amino acid position 316 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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