ClinVar Miner

Submissions for variant NM_017799.4(TMEM260):c.2102T>C (p.Leu701Pro)

gnomAD frequency: 0.00025  dbSNP: rs150654769
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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 RCV004467725 SCV004968595 uncertain significance Inborn genetic diseases 2024-03-14 criteria provided, single submitter clinical testing The c.2102T>C (p.L701P) alteration is located in exon 16 (coding exon 16) of the TMEM260 gene. This alteration results from a T to C substitution at nucleotide position 2102, causing the leucine (L) at amino acid position 701 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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