ClinVar Miner

Submissions for variant NM_012293.3(PXDN):c.632C>T (p.Ala211Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002933112 SCV003263934 uncertain significance Anterior segment dysgenesis 7 2023-07-09 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 211 of the PXDN protein (p.Ala211Val). This variant is present in population databases (rs187946539, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PXDN-related conditions. ClinVar contains an entry for this variant (Variation ID: 2054998). 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 RCV003274080 SCV003956525 uncertain significance Inborn genetic diseases 2023-03-23 criteria provided, single submitter clinical testing The c.632C>T (p.A211V) alteration is located in exon 7 (coding exon 7) of the PXDN gene. This alteration results from a C to T substitution at nucleotide position 632, causing the alanine (A) at amino acid position 211 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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