ClinVar Miner

Submissions for variant NM_152415.3(VPS37A):c.928A>G (p.Thr310Ala)

gnomAD frequency: 0.00001  dbSNP: rs773070587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848280 SCV002105996 uncertain significance Hereditary spastic paraplegia 2017-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038700 SCV003914600 uncertain significance not specified 2023-03-13 criteria provided, single submitter clinical testing The c.928A>G (p.T310A) alteration is located in exon 9 (coding exon 9) of the VPS37A gene. This alteration results from a A to G substitution at nucleotide position 928, causing the threonine (T) at amino acid position 310 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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