ClinVar Miner

Submissions for variant NM_002115.3(HK3):c.1708G>A (p.Glu570Lys)

dbSNP: rs778816240
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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 RCV004399505 SCV004882331 uncertain significance not specified 2024-01-24 criteria provided, single submitter clinical testing The c.1708G>A (p.E570K) alteration is located in exon 12 (coding exon 11) of the HK3 gene. This alteration results from a G to A substitution at nucleotide position 1708, causing the glutamic acid (E) at amino acid position 570 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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