ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2834C>T (p.Ala945Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002435155 SCV002752631 uncertain significance Inborn genetic diseases 2020-10-12 criteria provided, single submitter clinical testing The p.A945V variant (also known as c.2834C>T), located in coding exon 18 of the INF2 gene, results from a C to T substitution at nucleotide position 2834. The alanine at codon 945 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005227770 SCV005869330 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-10-02 criteria provided, single submitter clinical testing

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