ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.2296C>G (p.Leu766Val)

gnomAD frequency: 0.00003  dbSNP: rs201466403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341875 SCV001535771 uncertain significance not provided 2020-10-13 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. This sequence change replaces leucine with valine at codon 766 of the TRPC6 protein (p.Leu766Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs201466403, ExAC 0.001%). This variant has not been reported in the literature in individuals with TRPC6-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
Fulgent Genetics, Fulgent Genetics RCV002499678 SCV002783093 uncertain significance Focal segmental glomerulosclerosis 2 2021-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546943 SCV003630042 uncertain significance Inborn genetic diseases 2022-06-13 criteria provided, single submitter clinical testing The c.2296C>G (p.L766V) alteration is located in exon 9 (coding exon 9) of the TRPC6 gene. This alteration results from a C to G substitution at nucleotide position 2296, causing the leucine (L) at amino acid position 766 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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