ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.509C>T (p.Thr170Met)

gnomAD frequency: 0.00001  dbSNP: rs767698763
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300378 SCV001489516 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-09-25 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1003777). This variant has not been reported in the literature in individuals affected with INF2-related conditions. This variant is present in population databases (rs767698763, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 170 of the INF2 protein (p.Thr170Met).
Fulgent Genetics, Fulgent Genetics RCV001300378 SCV002783326 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003355367 SCV004084495 uncertain significance Inborn genetic diseases 2023-07-14 criteria provided, single submitter clinical testing The c.509C>T (p.T170M) alteration is located in exon 4 (coding exon 3) of the INF2 gene. This alteration results from a C to T substitution at nucleotide position 509, causing the threonine (T) at amino acid position 170 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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