ClinVar Miner

Submissions for variant NM_201521.3(KLC4):c.236A>T (p.Glu79Val)

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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 RCV004941258 SCV005611023 uncertain significance not specified 2024-11-24 criteria provided, single submitter clinical testing The c.290A>T (p.E97V) alteration is located in exon 2 (coding exon 2) of the KLC4 gene. This alteration results from a A to T substitution at nucleotide position 290, causing the glutamic acid (E) at amino acid position 97 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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