ClinVar Miner

Submissions for variant NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T

dbSNP: rs727503948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153319 SCV000202799 pathogenic not provided 2014-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516076 SCV003445309 pathogenic Fabry disease 2022-06-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GLA function (PMID: 19387866, 21598360, 22773828). 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. ClinVar contains an entry for this variant (Variation ID: 167139). This missense change has been observed in individuals with Fabry disease (PMID: 7531540, 15091117, 33437642). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 244 of the GLA protein (p.Asp244Asn).

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