ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.992C>T (p.Pro331Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003130427 SCV003814345 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2021-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246052 SCV004945790 uncertain significance Inborn genetic diseases 2024-01-17 criteria provided, single submitter clinical testing The c.992C>T (p.P331L) alteration is located in exon 6 (coding exon 6) of the TMEM5 gene. This alteration results from a C to T substitution at nucleotide position 992, causing the proline (P) at amino acid position 331 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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