ClinVar Miner

Submissions for variant NM_018372.4(LRIF1):c.1435C>A (p.Pro479Thr)

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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 RCV004634104 SCV005136848 uncertain significance not specified 2024-04-27 criteria provided, single submitter clinical testing The c.1435C>A (p.P479T) alteration is located in exon 2 (coding exon 2) of the LRIF1 gene. This alteration results from a C to A substitution at nucleotide position 1435, causing the proline (P) at amino acid position 479 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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