ClinVar Miner

Submissions for variant NM_020125.3(SLAMF8):c.128T>C (p.Phe43Ser)

gnomAD frequency: 0.00001  dbSNP: rs769924299
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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 RCV004279624 SCV003904905 uncertain significance not specified 2023-02-23 criteria provided, single submitter clinical testing The c.128T>C (p.F43S) alteration is located in exon 2 (coding exon 2) of the SLAMF8 gene. This alteration results from a T to C substitution at nucleotide position 128, causing the phenylalanine (F) at amino acid position 43 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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