ClinVar Miner

Submissions for variant NM_014889.4(PITRM1):c.1609A>G (p.Ile537Val)

gnomAD frequency: 0.00001  dbSNP: rs772076883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002078624 SCV002380124 likely benign not provided 2024-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045719 SCV005004132 uncertain significance not specified 2022-01-31 criteria provided, single submitter clinical testing The c.1609A>G (p.I537V) alteration is located in exon 14 (coding exon 14) of the PITRM1 gene. This alteration results from a A to G substitution at nucleotide position 1609, causing the isoleucine (I) at amino acid position 537 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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