ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.295A>G (p.Lys99Glu)

gnomAD frequency: 0.00001  dbSNP: rs781126536
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004400696 SCV004886787 uncertain significance Inborn genetic diseases 2023-12-12 criteria provided, single submitter clinical testing The c.295A>G (p.K99E) alteration is located in exon 3 (coding exon 2) of the ALDOB gene. This alteration results from a A to G substitution at nucleotide position 295, causing the lysine (K) at amino acid position 99 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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