ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)

dbSNP: rs2151019295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730028 SCV001976779 likely pathogenic HNSHA due to aldolase A deficiency 2021-08-10 criteria provided, single submitter clinical testing PM2, PM3, PP3, PP5
Labcorp Genetics (formerly Invitae), Labcorp RCV001730028 SCV004297715 pathogenic HNSHA due to aldolase A deficiency 2022-10-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1299556). This missense change has been observed in individual(s) with aldolase A deficiency (PMID: 25392908, 33665120). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 280 of the ALDOA protein (p.Ala280Val).

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