ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.5C>T (p.Ala2Val)

dbSNP: rs930944969
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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 RCV002879403 SCV003641326 uncertain significance Inborn genetic diseases 2022-08-16 criteria provided, single submitter clinical testing The c.5C>T (p.A2V) alteration is located in exon 2 (coding exon 1) of the ALDOB gene. This alteration results from a C to T substitution at nucleotide position 5, causing the alanine (A) at amino acid position 2 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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