ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.1207A>G (p.Thr403Ala)

gnomAD frequency: 0.00006  dbSNP: rs371232368
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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 RCV000644561 SCV000766261 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2022-04-07 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 403 of the PRF1 protein (p.Thr403Ala). This variant is present in population databases (rs371232368, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PRF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 536219). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004659140 SCV005152108 uncertain significance Inborn genetic diseases 2024-05-06 criteria provided, single submitter clinical testing The c.1207A>G (p.T403A) alteration is located in exon 3 (coding exon 2) of the PRF1 gene. This alteration results from a A to G substitution at nucleotide position 1207, causing the threonine (T) at amino acid position 403 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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