ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1757A>G (p.His586Arg)

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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 RCV002576149 SCV002931810 likely benign not provided 2024-12-03 criteria provided, single submitter clinical testing
GeneDx RCV002576149 SCV003842710 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004973439 SCV005569030 uncertain significance Inborn genetic diseases 2024-11-21 criteria provided, single submitter clinical testing The c.1757A>G (p.H586R) alteration is located in exon 24 (coding exon 23) of the COL4A4 gene. This alteration results from a A to G substitution at nucleotide position 1757, causing the histidine (H) at amino acid position 586 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005019232 SCV005649161 uncertain significance Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 2024-01-22 criteria provided, single submitter clinical testing

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