ClinVar Miner

Submissions for variant NM_015065.3(EXPH5):c.400T>A (p.Ser134Thr)

gnomAD frequency: 0.00027  dbSNP: rs145231502
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002975181 SCV003279577 benign not provided 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004617131 SCV005120103 uncertain significance Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing The c.400T>A (p.S134T) alteration is located in exon 3 (coding exon 3) of the EXPH5 gene. This alteration results from a T to A substitution at nucleotide position 400, causing the serine (S) at amino acid position 134 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004758246 SCV005353835 likely benign EXPH5-related disorder 2024-06-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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