ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.623C>G (p.Pro208Arg)

gnomAD frequency: 0.00008  dbSNP: rs2295919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753020 SCV002006481 likely benign not provided 2020-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001753020 SCV003247054 uncertain significance not provided 2024-05-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 209 of the COL4A6 protein (p.Pro209Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with COL4A6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1318245). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL4A6 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004611873 SCV005106028 uncertain significance not specified 2024-04-19 criteria provided, single submitter clinical testing The c.626C>G (p.P209R) alteration is located in exon 10 (coding exon 10) of the COL4A6 gene. This alteration results from a C to G substitution at nucleotide position 626, causing the proline (P) at amino acid position 209 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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