ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.667A>G (p.Ile223Val)

gnomAD frequency: 0.00010  dbSNP: rs150033580
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002124687 SCV002409607 benign not provided 2022-07-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500046 SCV002809168 likely benign Focal segmental glomerulosclerosis 2 2022-03-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003015354 SCV003733984 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.667A>G (p.I223V) alteration is located in exon 2 (coding exon 2) of the TRPC6 gene. This alteration results from a A to G substitution at nucleotide position 667, causing the isoleucine (I) at amino acid position 223 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002124687 SCV005334565 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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