ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2668C>G (p.Pro890Ala)

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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 RCV003093662 SCV003470929 likely benign not provided 2024-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003085818 SCV003564373 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.2668C>G (p.P890A) alteration is located in exon 30 (coding exon 29) of the COL4A4 gene. This alteration results from a C to G substitution at nucleotide position 2668, causing the proline (P) at amino acid position 890 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003093662 SCV005415181 uncertain significance not provided 2024-05-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; 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
Fulgent Genetics, Fulgent Genetics RCV005028201 SCV005653961 uncertain significance Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 2024-02-08 criteria provided, single submitter clinical testing

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