ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2875C>T (p.Pro959Ser)

gnomAD frequency: 0.00005  dbSNP: rs369417066
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507880 SCV000604029 uncertain significance not specified 2016-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000766905 SCV000619116 uncertain significance not provided 2025-01-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001233859 SCV001406473 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2019-07-29 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 959 of the INF2 protein (p.Pro959Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with INF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 439828). 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.
Ambry Genetics RCV004023432 SCV004887965 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.2875C>T (p.P959S) alteration is located in exon 19 (coding exon 18) of the INF2 gene. This alteration results from a C to T substitution at nucleotide position 2875, causing the proline (P) at amino acid position 959 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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