ClinVar Miner

Submissions for variant NM_002115.3(HK3):c.734C>T (p.Thr245Met)

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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 RCV005352049 SCV006016178 uncertain significance not specified 2024-12-12 criteria provided, single submitter clinical testing The c.734C>T (p.T245M) alteration is located in exon 8 (coding exon 7) of the HK3 gene. This alteration results from a C to T substitution at nucleotide position 734, causing the threonine (T) at amino acid position 245 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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