ClinVar Miner

Submissions for variant NM_002115.3(HK3):c.1802G>A (p.Ser601Asn)

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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 RCV004933313 SCV005599729 uncertain significance not specified 2024-09-25 criteria provided, single submitter clinical testing The c.1802G>A (p.S601N) alteration is located in exon 13 (coding exon 12) of the HK3 gene. This alteration results from a G to A substitution at nucleotide position 1802, causing the serine (S) at amino acid position 601 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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