ClinVar Miner

Submissions for variant NM_017838.4(NHP2):c.394C>T (p.His132Tyr)

gnomAD frequency: 0.00009  dbSNP: rs146766601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202600 SCV001373717 uncertain significance Dyskeratosis congenita 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 132 of the NHP2 protein (p.His132Tyr). This variant is present in population databases (rs146766601, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NHP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 934247). 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: "Probably 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.
Baylor Genetics RCV001292701 SCV001481319 uncertain significance Dyskeratosis congenita, autosomal recessive 2 2018-11-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV001202600 SCV002527221 uncertain significance Dyskeratosis congenita 2021-12-13 criteria provided, single submitter curation

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