ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu)

gnomAD frequency: 0.00016  dbSNP: rs371717486
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040564 SCV001204145 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001040564 SCV001802343 uncertain significance not provided 2023-07-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on 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 RCV002551476 SCV003581431 uncertain significance Inborn genetic diseases 2022-01-10 criteria provided, single submitter clinical testing The c.1055C>T (p.P352L) alteration is located in exon 18 (coding exon 17) of the COL4A4 gene. This alteration results from a C to T substitution at nucleotide position 1055, causing the proline (P) at amino acid position 352 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274060 SCV001457790 uncertain significance Alport syndrome 2020-02-13 no assertion criteria provided clinical testing

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