ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.193G>T (p.Ala65Ser)

dbSNP: rs772453351
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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 RCV001034262 SCV001197597 likely benign Neuronal ceroid lipofuscinosis 2022-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973244 SCV005573675 uncertain significance Inborn genetic diseases 2024-08-07 criteria provided, single submitter clinical testing The c.193G>T (p.A65S) alteration is located in exon 3 (coding exon 2) of the DNAJC5 gene. This alteration results from a G to T substitution at nucleotide position 193, causing the alanine (A) at amino acid position 65 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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