ClinVar Miner

Submissions for variant NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu)

dbSNP: rs1576203003
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000851307 SCV000993601 likely pathogenic not provided 2023-04-07 criteria provided, single submitter research
Ambry Genetics RCV004017756 SCV001444217 likely pathogenic not specified 2019-11-14 criteria provided, single submitter clinical testing The alteration results in an amino acid change:_x000D_ _x000D_ The c.365C>T (p.P122L) alteration is located in exon 4 (coding exon 3) of the H3F3A gene. This alteration results from a C to T substitution at nucleotide position 365, causing the proline (P) at amino acid position 122 to be replaced by a leucine (L). The alteration is not observed in population databases:_x000D_ _x000D_ Based on data from the Genome Aggregation Database (gnomAD), the H3F3A c.365C>T alteration was not observed, with coverage at this position The altered amino acid is conserved throughout evolution:_x000D_ _x000D_ The p.P122 amino acid is conserved in available vertebrate species. The amino acid is located in a functionally important protein domain:_x000D_ _x000D_ The p.P122L lies on the protein surface is and predicted to be moderately disruptive and is more disruptive than known pathogenic variants (Tachiwana, 2011). The alteration is predicted inconclusive by in silico modeling:_x000D_ _x000D_ The in silico prediction for the p.P122L alteration is inconclusive. Based on the available evidence, this alteration is classified as likely pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV000851307 SCV001500883 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000851307 SCV002549659 pathogenic not provided 2022-07-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33268356, 21636898, 34876591)
Baylor Genetics RCV001541913 SCV001759942 likely pathogenic Global developmental delay; Short stature; Delayed speech and language development; Intellectual disability; Brain imaging abnormality 2021-07-15 no assertion criteria provided research
OMIM RCV001823747 SCV002073379 pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 1 2022-02-01 no assertion criteria provided literature only

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