ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu)

gnomAD frequency: 0.00004  dbSNP: rs767901025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667621 SCV000792100 uncertain significance Autosomal recessive Alport syndrome 2017-06-07 criteria provided, single submitter clinical testing
3billion RCV000667621 SCV002573116 uncertain significance Autosomal recessive Alport syndrome 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.004%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.72; 3Cnet: 0.02). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Invitae RCV002530717 SCV003525000 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing

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