ClinVar Miner

Submissions for variant NM_031220.4(PITPNM3):c.2510C>T (p.Ala837Val)

gnomAD frequency: 0.00001  dbSNP: rs756226356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199221 SCV001370258 uncertain significance Cone-rod dystrophy 5 2019-06-03 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001863137 SCV002254665 uncertain significance not provided 2022-08-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 932079). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 837 of the PITPNM3 protein (p.Ala837Val). 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 PITPNM3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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