ClinVar Miner

Submissions for variant NM_015565.3(LTN1):c.3893A>G (p.Asn1298Ser)

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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 RCV004640263 SCV005130063 uncertain significance not specified 2024-04-09 criteria provided, single submitter clinical testing The c.4031A>G (p.N1344S) alteration is located in exon 22 (coding exon 22) of the LTN1 gene. This alteration results from a A to G substitution at nucleotide position 4031, causing the asparagine (N) at amino acid position 1344 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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