ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.1007C>T (p.Thr336Met)

dbSNP: rs201195142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388280 SCV000471226 likely benign Occult macular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004659016 SCV005156146 uncertain significance Inborn genetic diseases 2024-05-10 criteria provided, single submitter clinical testing The c.1007C>T (p.T336M) alteration is located in exon 4 (coding exon 3) of the RP1L1 gene. This alteration results from a C to T substitution at nucleotide position 1007, causing the threonine (T) at amino acid position 336 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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