ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.610A>G (p.Ile204Val)

gnomAD frequency: 0.00004  dbSNP: rs374558572
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002507279 SCV002796377 uncertain significance Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535040 SCV003750499 uncertain significance Inborn genetic diseases 2021-05-18 criteria provided, single submitter clinical testing The c.610A>G (p.I204V) alteration is located in exon 6 (coding exon 5) of the ALPL gene. This alteration results from a A to G substitution at nucleotide position 610, causing the isoleucine (I) at amino acid position 204 to be replaced by a valine (V). The in silico prediction for the p.I204V alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Gharavi Laboratory, Columbia University RCV000723000 SCV000854131 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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