ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.458C>A (p.Thr153Lys)

dbSNP: rs767677756
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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 RCV002713163 SCV003561689 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.458C>A (p.T153K) alteration is located in exon 4 (coding exon 4) of the HEXA gene. This alteration results from a C to A substitution at nucleotide position 458, causing the threonine (T) at amino acid position 153 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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