ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3494C>T (p.Ala1165Val)

gnomAD frequency: 0.00001  dbSNP: rs771044828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497978 SCV000590368 uncertain significance not provided 2017-06-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the INF2 gene. The A1165V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A1165V variant is observed in 3/63434 (0.005%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A1165V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV003766802 SCV004570355 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-10-09 criteria provided, single submitter clinical testing

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