ClinVar Miner

Submissions for variant NM_001387690.1(KATNAL2):c.1173A>C (p.Glu391Asp)

dbSNP: rs112035176
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004026902 SCV000850833 uncertain significance not specified 2021-12-20 criteria provided, single submitter clinical testing The c.957A>C (p.E319D) alteration is located in exon 12 (coding exon 11) of the KATNAL2 gene. This alteration results from a A to C substitution at nucleotide position 957, causing the glutamic acid (E) at amino acid position 319 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004705778 SCV005215406 likely benign not provided criteria provided, single submitter not provided

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