ClinVar Miner

Submissions for variant NM_022367.4(SEMA4A):c.380T>C (p.Phe127Ser)

gnomAD frequency: 0.00001  dbSNP: rs142104983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002033113 SCV002107722 uncertain significance not provided 2021-10-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SEMA4A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 127 of the SEMA4A protein (p.Phe127Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine.
Ambry Genetics RCV004857815 SCV005496593 uncertain significance not specified 2024-10-01 criteria provided, single submitter clinical testing The c.380T>C (p.F127S) alteration is located in exon 5 (coding exon 4) of the SEMA4A gene. This alteration results from a T to C substitution at nucleotide position 380, causing the phenylalanine (F) at amino acid position 127 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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