ClinVar Miner

Submissions for variant NM_002115.3(HK3):c.600G>T (p.Gln200His)

dbSNP: rs2532573043
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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 RCV004275217 SCV003902384 uncertain significance not specified 2023-02-16 criteria provided, single submitter clinical testing The c.600G>T (p.Q200H) alteration is located in exon 6 (coding exon 5) of the HK3 gene. This alteration results from a G to T substitution at nucleotide position 600, causing the glutamine (Q) at amino acid position 200 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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